A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
about
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among CaucasiansNovel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.A rapid molecular approach for chromosomal phasingGenetic determination of exocrine pancreatic function in cystic fibrosisMutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families.The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.Cystic fibrosis heterozygote screening in 5,161 pregnant womenGenetic analysis of Hispanic individuals with cystic fibrosis.Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe diseaseDevelopment, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.Mutation analysis of 184 cystic fibrosis families in WalesEvaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil)Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.Defective CFTR does not transport Cl- from cytosol to extracellular regionCFTR binds components of the ERAD machinery for ubiquitination and degradation
P2860
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P2860
A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
description
1991 nî lūn-bûn
@nan
1991 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի մարտին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
@ast
A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
@en
type
label
A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
@ast
A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
@en
prefLabel
A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
@ast
A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
@en
P2093
P2860
P1476
A mutation in the second nucleotide binding fold of the cystic fibrosis gene
@en
P2093
P2860
P304
P407
P577
1991-03-01T00:00:00Z