Article
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.
Human genetics - 1 Dec 2000
Yasuda T, Yamaguchi N, Kobayashi K, Nishi I, Horinouchi H, Jalil M A, Li M X, Ushikai M, Iijima M, Kondo I, Saheki T
Abstract excerpt
Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific deficiency of argininosuccinate synthetase (ASS) protein. We have recently identified the gene responsible for CTLN2, viz., SLC25A13, which encodes a calcium-binding mitochondrial carrier protein, designated citrin, and found five mutations of the SLC25A13 gene in CTLN2 patients. In the present study, we have identified two novel...
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