Literature DB >> 1976597

delta F508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population.

L Simova1, C Williams, G D Efremov, A Gordova-Muratovska, S Sustić, E K Watson, R Williamson.   

Abstract

Chromosomes from 19 unrelated Southern Yugoslav families in which cystic fibrosis (CF) occurs were analysed for the presence of the delta F508 mutation, using polymerase chain reaction amplification followed by dot blot and polyacrylamide gel analysis. Of the 38 CF chromosomes, 15 (39.5%) carry the delta F508 deletion. Restriction fragment length polymorphism haplotypes for KM19/PstI, XV2c/TaqI and J3.11/PstI marker loci were determined and are compared for a total of 34 N and 37 CF chromosomes.

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Year:  1990        PMID: 1976597     DOI: 10.1007/bf02428301

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


  2 in total

1.  Frequency of the delta F508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients.

Authors:  B B Dabović; D Radojković; P Minić; J Savić; A Savić
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

2.  Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.

Authors:  M P Audrézet; N Canki-Klain; B Mercier; D Bracar; C Verlingue; C Férec
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

  2 in total

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