Human Mutation: Human Mutation: Vol 11, No S1

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Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the kniest form of spondyloepiphyseal dysplasia

Deletion-insertion mutation encompassing RET codon 634 is associated with medullary thyroid carcinoma

Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency

A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe x-linked charcot-marie-tooth disease

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome

Hemoglobin Phnom Penh [α117Phe(H1)-Ile-α118Thr(H2)]; evidence for a hotspot for insertion of residues in the third exon of the α1-globin gene

Novel 3678delA mutation in exon 26 of the dystrophin gene causing duchenne muscular dystrophy

Exon 6 skipping in the fanconi anemia C gene associated with a nonsense/missense mutation (775C→T) in exon 5: The first example of a nonsense mutation in one exon causing skipping of another downstream

A splicing mutation (891+4A→G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family

Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing

Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes

A 3-base pair insertional mutation in the choroideremia gene

Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa

Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: Diagnostic implications in morquio disease

Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1

Identification of an insertion and accompanying deletion in exon 31 of the neurofibromatosis type 1 gene

High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect

Novel nonsense mutation in exon 15 of the APC gene in one Jewish family

Frequency of codon 1061 and codon 1309 APC mutations in Australian familial adenomatous polyposis patients

A germline missense mutation R337C in exon 10 of the human p53 gene

Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with hunter disease

335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria

Cys 634 mutations in the RET proto-oncogene in Spanish families affected by MEN 2A

Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients

Identification of three novel mutations in the CFTR gene, R117P, ΔD192, and 3121-1G→A in four French patients

Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia

Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene

The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations

Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis

De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): Two amino acid insertion after Asp 118

Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome

Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis

Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia

Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X

Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population

Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein

Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A

Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male

A novel mutation, R125X in peroxisome assembly factor-1 responsible for zellweger syndrome

Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

A novel mutation (E358K) in the α-galactosidase A gene detected in a Japanese family with Fabry disease

Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia

Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)

Dyslipidemias associated with heterozygous lipoprotein lipase mutations in the French-Canadian population

G6PD Mount Sinai: A new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D)

A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene

Identification of point mutations in the aminopeptidase N gene by SSCP analysis and sequencing

Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish population

Three novel germline BRCA1 mutations in early-onset breast and ovarian cancer families

A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma

Identification of three new mutations of the low density lipoprotein receptor gene in Dutch familial hypercholesterolemic patients

The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphoma

Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family

Novel 5 bp germline deletion in exon 11 of the BRCA1 gene

Two new missense mutations (P134T and A244V) in the coagulation factor VII gene

Mutation in the 5′ noncoding region of the SRY gene in an XY sex-reversed patient

Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: Screening reveals low frequency in Icelandic breast cancer patients

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype

Use of conformation sensitive gel electrophoresis to detect single-base changes in the gene for COL10A1

First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy

Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia

3′ acceptor splice site mutation in intron 50 leads to mild duchenne muscular dystrophy phenotype

Novel missense mutation (M72V) of α-galactosidase gene and its expression product in an atypical fabry hemizygote

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes

310 basepair APC deletion with duplication of breakpoint (4394ins 15del310) in an Italian polyposis patient

Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia

Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia

A common mutation among blacks with mut⁻ methylmalonic aciduria