Literature DB >> 2883581

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.

X Estivill, M Farrall, P J Scambler, G M Bell, K M Hawley, N J Lench, G P Bates, H C Kruyer, P A Frederick, P Stanier.   

Abstract

A genomic sequence close to the cystic fibrosis locus with the characteristics of an HTF island has been selectively cloned and characterized. Two markers flanking this sequence, which is conserved throughout mammalian evolution, show a very much greater disequilibrium than that found with any existing marker. A single mutational event accounts for most cases of cystic fibrosis. The sequence is expressed, and is a candidate for the cystic fibrosis gene.

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Year:  1987        PMID： 2883581     DOI： 10.1038/326840a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


  130 in total

1.  Expected behavior of conditional linkage disequilibrium.

Authors:  N Kaplan; B S Weir
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

2.  A 3' splice site consensus sequence mutation in the cystic fibrosis gene.

Authors:  H Guillermit; P Fanen; C Ferec
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

3.  Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).

Authors: 
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

4.  Hitch-hiking from HRAS1 to the WAGR locus with CMGT markers.

Authors:  W Bickmore; S Christie; V van Heyningen; N D Hastie; D J Porteous
Journal:  Nucleic Acids Res       Date:  1988-01-11       Impact factor: 16.971

5.  An exclusion map for pre-eclampsia: assuming autosomal recessive inheritance.

Authors:  C Hayward; J Livingstone; S Holloway; W A Liston; D J Brock
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

6.  A tetranucleotide repeat polymorphism in the cystic fibrosis gene.

Authors:  P Gasparini; M Dognini; A Bonizzato; P F Pignatti; N Morral; X Estivill
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

7.  Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.

Authors:  J Reiss; D N Cooper; J Bal; R Slomski; G R Cutting; M Krawczak
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

Review 8.  Basic aspects of cystic fibrosis.

Authors:  J J Wine
Journal:  Clin Rev Allergy       Date:  1991 Spring-Summer

9.  Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS.

Authors:  D Wöhrle; G Barbi; W Schulz; P Steinbach
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

10.  The major cystic fibrosis mutation in a British population.

Authors:  C J McMahon; S A Genet; H R Middleton-Price; P Rutland; M E Pembrey; S Malcolm
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132
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