Article
Cystine transport activity of heterozygous rBAT mutants expressed in Xenopus oocytes.
Nephron - 1 Jun 2002
Ishihara Masanari, Ogura Takehiko, Akakura Koichiro, Egoshi Ken-ichi, Mikami Kazuo, Nakaya Haruaki, Ito Haruo
Abstract excerpt
The rBAT gene encodes a transport protein for cystine and dibasic amino acids. It is a candidate gene for type I cystinuria, a genetic disorder inherited as an autosomal-recessive trait. Recently, several mutations in rBAT from Japanese patients with cystinuria have been reported from our laboratory. Some of these patients were heterozygous, which appears to be inconsistent with the previous concept that...
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