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Article

Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.

Kidney international - 1 Jan 2000

Egoshi K I, Akakura K, Kodama T, Ito H

Abstract excerpt

UNLABELLED: Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria. BACKGROUND: Cystinuria is an inheritable amino aciduria and has been classified into three subtypes: I, II, and III. One of the genes responsible for cystinuria has recently been identified as SLC3A1 or rBAT, but only type I cystinuria seems to be caused by genetic alterations in rBAT. To our knowledge, thus far 38...

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Identifiers

PMID: 10620184
DOI: 10.1046/j.1523-1755.2000.00821.x

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