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Genetic Investigations of CFTR Mutations in Congenital Absence of Vas Deferens, Uterus, and Vagina as a Cause of Infertility

✍ Scribed by Radpour, R.; Gourabi, H.; Dizaj, A. V.; Holzgreve, W.; Zhong, X. Y.


Book ID
119924683
Publisher
American Society of Andrology
Year
2008
Tongue
English
Weight
574 KB
Volume
29
Category
Article
ISSN
1939-4640

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We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories in France. We have analyzed 7,420 CF alleles, demonstrating a total of 310 different mutations including 24 not reported previously, accounting for 93.56% of CF genes. The most common were F508del (67