Article
Improved detection of CFTR mutations in Southern California Hispanic CF patients.
Human mutation - 1 Oct 2001
Wong L J, Wang J, Zhang Y H, Hsu E, Heim R A, Bowman C M, Woo M S
Abstract excerpt
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF), a common autosomal recessive disease in Caucasians. The broad mutation spectrum varies among different patient groups. Current molecular diagnoses are designed to detect 80-97% of CF chromosomes in Caucasians and Ashkenazi Jews but have a much lower detection rate in Hispanic CF patients. Grebe et al....
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