Article
Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese.
Human genetics - 1 Sept 1998
Lee H H, Chao H T, Lee Y J, Shu S G, Chao M C, Kuo J M, Chung B C
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. We have analyzed CYP21 gene sequences in 65 CAH families in Taiwan. All ten exons of the CYP21 gene were analyzed by differential polymerase chain reaction followed by single-strand conformation polymorphism electrophoresis and the amplification-created restriction...
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