About: Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France

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About: Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France Goto Sponge NotDistinct Permalink

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scientific article published on 01 August 1993

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) bài báo khoa học (vi) наукова стаття, опублікована в серпні 1993 (uk) article scientifique publié en 1993 (fr) im August 1993 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'agostu de 1993 (ast) scientific article published on 01 August 1993 (en)
publication date	wds:Q72096933-F2A5663D-65B9-482F-B8FF-A4F4D5936661
publication date	1993-08-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q72096933-152F36B7-19B0-4713-86CB-CC412B48B7D3 wds:Q72096933-1B403379-7F31-480C-B221-D331F733A5EC wds:Q72096933-5D161782-DF9F-409B-8DF1-8CCF2876A59E wds:Q72096933-8AEC6904-04DF-4C9C-96AE-D27F4EC54417 wds:Q72096933-C03B6432-D06B-45F5-A7C5-0F31DF6938C8 wds:Q72096933-EF079F06-515C-4B6D-9703-F61B928CB7F4 wds:Q72096933-F74142F7-3A8C-4AAA-91CB-4866CE1BAD59
author name string	M Claustres J Demaille G Razakatsara J F Culard M Desgeorges M Giansily M Laussel
rdfs:label	Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France (en) Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France (nl)
skos:prefLabel	Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France (en) Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France (nl)
name	Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France (en) Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France (nl)
title	wds:Q72096933-EBD37869-255E-42EC-BB7A-4A6C3C10A6DB
title	Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France (en)
page(s)	wds:Q72096933-C5AE8557-07B5-4F64-9CA6-549077FEDF17
page(s)	1209-1213
instance of	wds:Q72096933-167899D4-559E-481F-9460-F81B4440D7ED
instance of	scholarly article
main subject	wds:Q72096933-A1CCD24C-AFC1-4439-8476-76EE6F223716
main subject	cystic fibrosis
PubMed ID	wds:Q72096933-09B074D2-6EF2-49C4-811E-16F86050B87A
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7691344
PubMed ID	7691344
published in	wds:Q72096933-4293F64E-4715-4314-89E6-7580F222A7E2
published in	Human Molecular Genetics
issue	wds:Q72096933-2C214983-8CAF-4E84-B0B5-808AFAE166BE
volume	wds:Q72096933-9F4153A0-0817-4233-832C-76B989A5D02B
issue	8
volume	2
DOI	wds:Q72096933-1644E738-5FC4-49F1-8E83-EE7C76910F3A
DOI	http://dx.doi.org/10.1093/HMG/2.8.1209
DOI	10.1093/HMG/2.8.1209
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q72096933
is cites work of	Clinical implications of cystic fibrosis transmembrane conductance regulator mutations Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium Screening practices for mutations in the CFTR gene ABCC7. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation Phenotypic consequences of branch point substitutions Mutation analysis in 600 French cystic fibrosis patients Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations Discussion on genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients 394delTT: a Nordic cystic fibrosis mutation Identification of rare and novel mutations in the CFTR genes of CF patients in southern England Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene Applications of heteroduplex analysis for mutation detection in disease genes Missense mutations in the cystic fibrosis gene in adult patients with asthma Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide The molecular basis of cystic fibrosis in South Africa Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients. Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X. Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis. Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy Crucial role for phylogenetically conserved cytoplasmic loop 3 in ABCC4 protein expression Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis. Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype
is cites work of	wds:Q46870667-41F30114-B6AA-474A-8400-F7ACE4B9600F wds:Q47418770-A75CE1EF-0709-4784-A81A-F7536247B5AF wds:Q36230171-CA839DDD-29F6-408A-B62F-74F1A37DE863 wds:Q45872051-8D23F2C4-4CC8-4AA0-A372-40721685272C wds:Q41824743-03028802-C435-40FD-8A67-F9DE1CC378CF wds:Q53476375-48C6F6B0-3835-4C1A-BB1B-C99B40F7C4E1 wds:Q53748040-9AD8B9FF-DAA4-4521-9BDC-81F5EDC8C7BE wds:Q61633016-370371EF-560F-4342-8F2E-B83D04C5D1A8 wds:Q41038949-07CBA39D-4FCF-40FE-853D-91484D579AA2

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