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Novel Missense Mutations in the Cystic Fibrosis Gene of Brazilian Patients With Congenital Absence of Vas Deferens

✍ Scribed by P.C. Pieri; M.T. Missaglia; J.A. Roque; C.A. Moreira-Filho Sr.; J. Hallak Sr.


Book ID
116468011
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
59 KB
Volume
84
Category
Article
ISSN
1556-5653

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✍ Mireille Claustres; Caroline Guittard; Dominique Bozon; FranΓ§oise Chevalier; Cla πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 532 KB

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