Literature DB >> 2210760

Cystic fibrosis haplotype association and the delta F508 mutation in adult British CF patients.

G Santis1, L Osborne, R Knight, M Ramsay, R Williamson, M Hodson.   

Abstract

The delta F508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult British CF patients. delta F508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of pancreatic sufficient CF chromosomes. All patients with meconium ileus were homozygous for the deletion.

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Year:  1990        PMID: 2210760     DOI: 10.1007/bf02428295

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  3 in total

Review 1.  Integrating genomic and clinical medicine: searching for susceptibility genes in complex lung diseases.

Authors:  Ankit A Desai; Pirro Hysi; Joe G N Garcia
Journal:  Transl Res       Date:  2007-12-18       Impact factor: 7.012

2.  Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

Authors:  I Lerer; M Sagi; G R Cutting; D Abeliovich
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

3.  Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.

Authors:  T Casals; C Vázquez; C Lázaro; E Girbau; F J Giménez; X Estivill
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

  3 in total

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