Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients-Reference-Cited by-同舟云学术

Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients

Published:2002-08-15 Issue:3 Volume:113 Page:250-257
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kılınç Mehmet Okyay,Ninis Vasiliki Ninidu,Dağlı Elif,Demirkol Mübeccel,Özkınay Ferda,Arıkan Zeliha,Çoğulu Özgür,Hüner Gülden,Karakoç Fazilet,Tolun Aslıhan

Funder

Scientific and Technical Research Council of Turkey

Turkish Academy of Sciences

Boğaziçi University Research Fund

Publisher

Wiley

Subject

Genetics (clinical)

Reference34 articles.

1. Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation;Angelicheva;Hum Mutat,1994

2. High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes;Casals;Hum Genet,1997

3. CFGAC http://www.genet.sickkids.on.ca

4. A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the ΔF508 mutation: implications for prenatal diagnosis and mutation origin;Chehab;Am J Hum Genet,1991

5. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of all CF chromosomes;Chillon;Hum Genet,1994

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