Article Index - Human Mutation - Wiley Online Library

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Clinically applicable mutation screening in familial hypercholesterolemia
Henrik Nissen, Per Guldberg, Annebirthe Bo Hansen, Niels Erik Petersen, Mogens Hørder,

First published: 1996
Mutations in Brief
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Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia
Tso-Ren Wang, Wen-Pin Wang, Wuh-Liang Hwu, Ming-Liang Lee,

First published: 1996
Mutations in Brief
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Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)
Amporn Tripatara, Douglas S. Kerr, Marilyn M. Lusk, Madhu Kolli, Jie Tan, Mulchand S. Patel,

First published: 1996
Mutations in Brief
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New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism
Alessandra Meloni, Antonella Meloni, Antonio Cao, Maria Cristina Rosatelli,

First published: 1996
Mutations in Brief
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Charcot-Marie-Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0
Françoise Blanquet-Grossard, Danielle Pham-Dinh, André Dautigny, Philippe Latour, Christine Bonnebouche, Philippe Diraison, Françoise Chapon, Guy Chazot, Antoon Vandenberghe,

First published: 1996
Mutations in Brief
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Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene
Seiji Fukuda, Shunji Tomatsu, Alan Cooper, J.E. Wraith, Zenichiro Kato, Naoto Yamada, Koji Isogai, Kazuko Sukegawa, Naomi Kondo, Tadao Orii,

First published: 1996
Mutations in Brief
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Two new variants of RAG-1 protein predicted by SSCP
J.F. Nomdedéu, A. Lasa, R. Seminago, E. Rubiol, M. Baiget, J. Soler,

First published: 1996
Mutations in Brief
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Four novel germline mutations of the APC gene
Dagan Wells, Pamela Chapman, Judith C. Landgrebe, Katia Tsioupra, Joy D.A. Delhanty,

First published: 1996
Mutation Update
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Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis
Philippe Maillet, Nicole Alloisio, Laurette Morlé, Jean Delaunay,

First published: 1996
Special Article
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Mutation nomenclature: Nicknames, systematic names, and unique identifiers
Ernest Beutler, Victor A. McKusick, Arno G. Motulsky, Charles R. Scriver, Franklin Hutchinson,

First published: 1996
Mutation Update
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Glucocerebrosidase (Gaucher disease)
Ernest Beutler, Terri Gelbart,

First published: 1996
Short Communication
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Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene
Simeon A. Boyadjiev, Amrik Sahota, Jay A. Tischfield,

First published: 1996
Research Article
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An additional mitochondrial tRNA^Ile point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy
F. Merante, T. Myint, I. Tein, L. Benson, B.H. Robinson,

First published: 1996
Research Article
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Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome
Fay Katz, Steve Hinshelwood, Paul Rutland, Alison Jones, Christine Kinnon, Gareth Morgan,

First published: 1996
Research Article
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Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes
David Hughes, Andrew Wallace, Joanne Taylor, May Tassabehji, Roger McMahon, Alison Hill, Norman Nevin, Colin Graham,

First published: 1996
Research Article
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PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems
Per M. Knappskog, Hans Geir Eiken, Aurora Martínez, Ove Bruland, Jaran Apold, Torgeir Flatmark,

First published: 1996
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Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: Detection of two novel mutations
Donald Seto, Bruce D. Weintraub,

First published: 1996
Mutations in Brief
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Ethnic difference in the pattern of K-ras oncogene mutations in human colorectal cancers
Naoko Hayashi, Sachiko Sugai, Isao Ito, Shoji Nakamori, Michio Ogawa, Yusuke Nakamura,

First published: 1996
Mutations in Brief
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Mutation analysis of phenylketonuria in South Brazil
Belén Pérez, Lourdes R. Desviat, Marisel De Lucca, Benjamin Schmidt, Nicole Loghin-Grosso, Roberto Giugliani, Ricardo F. Pires, Magdalena Ugarte,

First published: 1996
Mutations in Brief
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Unequal homologous crossing over resulting in duplication of 36 base pairs within Exon 47 of the COL4A5 gene in a family with Alport syndrome
Eija-Riitta Hämäläinen, Alessandra Renieri, Carmine Pecoraro, Mario De Marchi, Taina Pihlajaniemi,

First published: 1996

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Human Mutation

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All Human Mutation Articles

full

Clinically applicable mutation screening in familial hypercholesterolemia

full

Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia

full

Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)

full

New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism

full

Charcot-Marie-Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0

full

Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene

full

Two new variants of RAG-1 protein predicted by SSCP

full

Four novel germline mutations of the APC gene

full

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis

full

Mutation nomenclature: Nicknames, systematic names, and unique identifiers

full

Glucocerebrosidase (Gaucher disease)

full

Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene

full

An additional mitochondrial tRNA^Ile point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

full

Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome

full

Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes

full

PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems

full

Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: Detection of two novel mutations

full

Ethnic difference in the pattern of K-ras oncogene mutations in human colorectal cancers

full

Mutation analysis of phenylketonuria in South Brazil

full

Unequal homologous crossing over resulting in duplication of 36 base pairs within Exon 47 of the COL4A5 gene in a family with Alport syndrome

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full Clinically applicable mutation screening in familial hypercholesterolemia

full Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia

full Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)

full New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism

full Charcot-Marie-Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0

full Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene

full Two new variants of RAG-1 protein predicted by SSCP

full Four novel germline mutations of the APC gene

full Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis

full Mutation nomenclature: Nicknames, systematic names, and unique identifiers

full Glucocerebrosidase (Gaucher disease)

full Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene

full An additional mitochondrial tRNAIle point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

full Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome

full Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes

full PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems

full Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: Detection of two novel mutations

full Ethnic difference in the pattern of K-ras oncogene mutations in human colorectal cancers

full Mutation analysis of phenylketonuria in South Brazil

full Unequal homologous crossing over resulting in duplication of 36 base pairs within Exon 47 of the COL4A5 gene in a family with Alport syndrome

full

Clinically applicable mutation screening in familial hypercholesterolemia

full

Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia

full

Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)

full

New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism

full

Charcot-Marie-Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0

full

Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene

full

Two new variants of RAG-1 protein predicted by SSCP

full

Four novel germline mutations of the APC gene

full

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis

full

Mutation nomenclature: Nicknames, systematic names, and unique identifiers

full

Glucocerebrosidase (Gaucher disease)

full

Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene

full

An additional mitochondrial tRNA^Ile point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

full

Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome

full

Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes

full

PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems

full

Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: Detection of two novel mutations

full

Ethnic difference in the pattern of K-ras oncogene mutations in human colorectal cancers

full

Mutation analysis of phenylketonuria in South Brazil

full

Unequal homologous crossing over resulting in duplication of 36 base pairs within Exon 47 of the COL4A5 gene in a family with Alport syndrome