Article Index - Human Mutation - Wiley Online Library

All Human Mutation Articles

Filters

1-20 of 6,782 results

Date

Export Citation(s)Download PDF(s)

Mutation Update
Full Access

full

Mutations in pyruvate kinase
Ernest Beutler, Luciano Baronciani,

First published: 1996
Research Article
Full Access

full

Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations
Atsushi Yamagishi, Shunji Tomatsu, Seiji Fukuda, Atsushi Uchiyama, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Kazuko Sukegawa, Tadao Orii,

First published: 1996
Research Article
Full Access

full

Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome
James H. Asher, Annemarie Sommer, Robert Morell, Thomas B. Friedman,

First published: 1996
Research Article
Full Access

full

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease
Benjamin B. Roa, Laura E. Warner, Carlos A. Garcia, Donna Russo, Robert Lovelace, Phillip F. Chance, James R. Lupski,

First published: 1996
Research Article
Full Access

full

Mutation analysis of the pyruvate dehydrogenase E₁α gene in eight patients with a pyruvate dehydrogenase complex deficiency
Willy Lissens, Linda De Meirleir, Sara Seneca, Chantal Benelli, Cécile Marsac, Bwee Tien Poll-The, Paz Briones, Wim Ruitenbeek, Otto van Diggelen, Denis Chaigne, Vincent Ramaekers, Ingeborg Liebaers,

First published: 1996
Research Article
Full Access

full

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient
Bernard Aral, Geneviève de Saint Basile, Sami Al-Garawi, Pierre Kamoun, Irène Ceballos-Picot,

First published: 1996
Research Article
Full Access

full

A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV
Joel McGrory, Teresa Costa, William G. Cole,

First published: 1996
Methods
Full Access

full

Chimeric probe-mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies
Philippe Maillet, Jean Delaunay, Faouzi Baklouti,

First published: 1996
Mutations in Brief
Full Access

full

Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann–Pick disease type A and B
Hiroyuki Ida, Owen M. Rennert, Kihei Maekawa, Yoshikatsu Eto,

First published: 1996
Mutations in Brief
Full Access

full

Identification of a novel single base insertion in the adenomatous polyposis coli gene
Maritha J. Kotze, Johanna J. Grobbelaar, Micheal V. Madden,

First published: 1996
Mutations in Brief
Full Access

full

A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects
Hilde Sundvold, Kari Solberg, Serena Tonstad, Olaug K. Rødningen, Leiv Ose, Kåre Berg, Trond P. Leren,

First published: 1996
Mutations in Brief
Full Access

full

Nonsense mutations in a Becker muscular dystrophy and an intermediate patient
Thomas W. Prior, Claire Bartolo, Audrey C. Papp, Pamela J. Snyder, Mary S. Sedra, Arthur H.M. Burghes, Jerry R. Mendell,

First published: 1996
Mutations in Brief
Full Access

full

Mutation analysis in 20 patients with Hunter disease
Sandra Leistner Goldenfum, Elisabeth Young, Helen Michelakakis, S. Tsagarakis, Bryan Winchester,

First published: 1996
Mutations in Brief
Full Access

full

New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone
Joachim Pohlenz, Winfried Schönberger, Heike Wemme, Andreas Winterpacht, Stefan Wirth, Bernhard Zabel,

First published: 1996
Mutation Update
Full Access

full

Molecular genetics of human antithrombin deficiency
David J. Perry, Robin W. Carrell,

First published: 1996
Mutations in Brief
Full Access

full

An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants
L.G. Jensen, H. K. Jensen, H. Nissen, K. Kristiansen, O. Færgeman, L. Bolund, N. Gregersen,

First published: 1996
Mutations in Brief
Full Access

full

Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis
Peter N. Robinson, Annegret Buske, Regina Neumann, Sigrid Tinschert, Peter Nürnberg,

First published: 1996
Research Article
Full Access

full

Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis
Michael L. Peacock, Marilyn J. Borst, Jason D. Sweet, Ruth A. Decker,

First published: 1996
Research Article
Full Access

full

Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection
Andreas Braun, Stefan Kammerer, Helmut Ambach, Adelbert A. Roscher,

First published: 1996
Research Article
Full Access

full

Molecular analysis of the TP53 gene in Barrett's adenocarcinoma
M.-P. Audrézet, M. Robaszkiewicz, B. Mercier, J.-B. Nousbaum, E. Hardy, J.-P. Bail, A. Volant, P. Lozac'h, H. Gouérou, C. Férec,

First published: 1996

Tools

Follow journal

Human Mutation

Filters

All Human Mutation Articles

full

Mutations in pyruvate kinase

full

Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

full

Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome

full

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

full

Mutation analysis of the pyruvate dehydrogenase E₁α gene in eight patients with a pyruvate dehydrogenase complex deficiency

full

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient

full

A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV

full

Chimeric probe-mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies

full

Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann–Pick disease type A and B

full

Identification of a novel single base insertion in the adenomatous polyposis coli gene

full

A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects

full

Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

full

Mutation analysis in 20 patients with Hunter disease

full

New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone

full

Molecular genetics of human antithrombin deficiency

full

An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

full

Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

full

Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis

full

Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection

full

Molecular analysis of the TP53 gene in Barrett's adenocarcinoma

About Wiley Online Library

Help & Support

Opportunities

Connect with Wiley

Tools

Follow journal

Human Mutation

Filters

Filter by Keyword

Publication Date

ACCESS STATUS

Author

All Human Mutation Articles

Download PDFs

full Mutations in pyruvate kinase

full Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

full Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome

full Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

full Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

full Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient

full A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV

full Chimeric probe-mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies

full Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann–Pick disease type A and B

full Identification of a novel single base insertion in the adenomatous polyposis coli gene

full A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects

full Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

full Mutation analysis in 20 patients with Hunter disease

full New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone

full Molecular genetics of human antithrombin deficiency

full An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

full Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

full Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis

full Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection

full Molecular analysis of the TP53 gene in Barrett's adenocarcinoma

full

Mutations in pyruvate kinase

full

Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

full

Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome

full

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

full

Mutation analysis of the pyruvate dehydrogenase E₁α gene in eight patients with a pyruvate dehydrogenase complex deficiency

full

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient

full

A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV

full

Chimeric probe-mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies

full

Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann–Pick disease type A and B

full

Identification of a novel single base insertion in the adenomatous polyposis coli gene

full

A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects

full

Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

full

Mutation analysis in 20 patients with Hunter disease

full

New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone

full

Molecular genetics of human antithrombin deficiency

full

An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

full

Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

full

Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis

full

Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection

full

Molecular analysis of the TP53 gene in Barrett's adenocarcinoma