Assignment of the methylmalonyl-CoA mutase gene (MUT) to porcine chromosome 7q13→q14 by in situ hybridization and analysis of radiation hybrid panels

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Assignment of the methylmalonyl-CoA mutase gene (MUT) to porcine chromosome 7q13-->q14 by in situ hybridization and analysis of radiation hybrid panels.

Methylmalonyl-CoA mutase (MCM) is a nuclear encoded mitochondrial matrix enzyme which catalyses the isomerisation between methylmalonyl-CoA and succinyl-CoA. Inborn genetic defects in the MUT gene encoding human MCM give rise to a serious disorder of propionic acid and methylmalonic acid metabolism termed mut methylmalonic aciduria (Crane et al., 1994). The clinical manifestation of the disease...

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ژورنال

عنوان ژورنال: Cytogenetic and Genome Research

سال: 2003

ISSN: 1424-8581,1424-859X

DOI: 10.1159/000073684