Literature DB >> 2210765

The cystic fibrosis delta F508 mutation in the French population.

B Simon-Bouy1, E Mornet, J L Serre, A Taillandier, J Boué, A Boué.   

Abstract

French families (n = 129) with at least one cystic fibrosis (CF) affected child and 44 unrelated subjects from the general population were tested for the presence of the delta F508 mutation by the polymerase chain reaction. The delta F508/CF mutation ratio (CF: uncharacterised CF mutations) was tested in the CF families with and without meconium ileus. The association between delta F508 and CF mutations and restriction fragment length polymorphism haplotypes (XV2c and KM19) has been estimated; these data suggest that the CF chromosomes include a panel of independent and probably different mutations.

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Year:  1990        PMID: 2210765     DOI: 10.1007/bf02428300

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


  2 in total

1.  Localization of the gene for amiloride binding protein on chromosome 7 and RFLP analysis in cystic fibrosis families.

Authors:  P Barbry; B Simon-Bouy; M G Mattéi; E Le Guern; B Jaume-Roig; O Chassande; A Ullrich; M Lazdunski
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

Authors:  F Muller; M Dommergues; B Simon-Bouy; C Ferec; J F Oury; M C Aubry; R Bessis; E Vuillard; E Denamur; T Bienvenu; J L Serre
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

  2 in total

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