Literature DB >> 1551678

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

B B Dabović1, D Radojković, P Minić, J Savić, A Savić.   

Abstract

A study was undertaken to find the frequency of the delta F508 deletion and those of the G551D, R553X and G524X mutations among the mainly Slavic population of Serbia, Bosnia, Herzegovina, and Montenegro and compare the frequencies determined with those in other European populations. The delta F508 mutation was found to account for about 70% of CF genes in central Jugoslavia, where its frequency is significantly higher than elsewhere in Southern European populations.

Entities:  

Mesh：

Year:  1992        PMID： 1551678     DOI： 10.1007/bf02265302

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


  5 in total

1.  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

2.  Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Authors:  B S Kerem; J Zielenski; D Markiewicz; D Bozon; E Gazit; J Yahav; D Kennedy; J R Riordan; F S Collins; J M Rommens
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

3.  Rapid nonradioactive detection of the major cystic fibrosis mutation.

Authors:  J Rommens; B S Kerem; W Greer; P Chang; L C Tsui; P Ray
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

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

Authors:  L Simova; C Williams; G D Efremov; A Gordova-Muratovska; S Sustić; E K Watson; R Williamson
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

5.  A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Authors:  G R Cutting; L M Kasch; B J Rosenstein; J Zielenski; L C Tsui; S E Antonarakis; H H Kazazian
Journal:  Nature       Date:  1990-07-26       Impact factor: 49.962
  5 in total
  1 in total

1.  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
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.