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Mutation and haplotype analyses of theMUTgene in Japanese patients with methylmalonic acidemia

✍ Scribed by Osamu Sakamoto; Toshihiro Ohura; Yoichi Matsubara; Masaki Takayanagi; Shigeru Tsuchiya

Publisher: Nature Publishing Group
Year: 2006
Tongue: English
Weight: 170 KB
Volume: 52
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s10038-006-0077-2

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## Communicated by Johannes Zschocke Methylmalonyl-CoA mutase (MCM) apoenzyme deficiency is a rare metabolic disease that may result in distinct biochemical phenotypes of methylmalonic acidemia (MMA), namely mut1 and mut-. We analyzed a cohort of 40 MCM-deficient patients with MMA affected by eithe