Article
Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination.
European journal of human genetics : EJHG - 1 Dec 2003
Chi Ching-Shiang, Tsai Chi-Ren, Chen Liang-Hui, Lee Hsiu-Fen, Mak Betty Suk-Chun, Yang Shu-Hsuang, Wang Tsai-Yuh, Shu San-Ging, Chen Chao-Hui
Abstract excerpt
Maple syrup urine disease (MSUD) is an autosomal recessive inborn error disorder derived from the accumulation of the branched-chain amino acids (BCAAs) leucine, isoleucine and valine. Either the E1alpha, E1beta or DBT (E2) genes are responsible for this neurometabolic disease. Here, we report the identification and characterization of a novel E2 gene 4.7 kb deletion as a rare nonhomologous recombination of the...
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