Article
Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis.
Human reproduction (Oxford, England) - 1 Mar 2004
Danziger Kari L, Black Lauri D, Keiles Steven B, Kammesheidt Anja, Turek Paul J
Abstract excerpt
BACKGROUND: Accurate determination of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is critical for genetic counselling and treatment of obstructive azoospermia. Of concern is that detection rates with routine CFTR mutation panels vary widely depending on patient ancestry; and such panels have limited value for azoospermic patients, who are more likely to carry rare mutations....
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