[Common mutations of congenital adrenal hyperplasia are also the hotspots for new mutations].

Abstract excerpt

OBJECTIVE: To discuss the genetic diagnosis of congenital adrenal hyperplasia (CAH) and investigate the resource of gene mutations in CAH. METHOD: Enzymatic methods with restriction endonucleases that specifically recognized the mutation sites were used to detect the gene mutations in patients with CAH and their relatives. Polymerase chain reaction and direct sequencing were used to identify the mutations in...

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