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Mutation analysis of the MCM gene in Korean patients with MMA.

Authors
Jung, JW; Hwang, IT; Park, JE; Lee, EH; Ryu, KH; Kim, SH; Hwang, JS
Citation
Molecular genetics and metabolism, 84(4):367-370, 2005
Journal Title
Molecular genetics and metabolism
ISSN
1096-71921096-7206
Abstract
Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of metabolism caused by inadequate function of methylmalonyl-CoA mutase. We studied five Korean patients diagnosed with mut MMA, here, we report five new missense mutations (G94E, R369C, S344Y, N189K, and T230I) and a previously reported mutation (R369H) that, this is the first time this mutation has been identified in Korean individuals. Genetic heterogeneity in mut MMA is high. The R369H mutation has been identified in America and Japan. To date, more than 55 different mutations have been identified in mut MMA. A majority of mutations is novel with only three (G717V, E117X, and N219Y) being reported more frequently, the G717V mutation was found in Africa-Americans and Ghanaian. The E117X mutation has been found in Japan. The N219Y mutation has been found in Caucasians and Arab. The R369H mutation is the first mutation identified in three nations (Korea, Japan, and America).
MeSH terms
Acidosis/genetics*Asian Continental Ancestry Group/geneticsFemaleHeterozygoteHumansKoreaMaleMetabolism, Inborn Errors/genetics*Methylmalonyl-CoA Mutase/genetics*Mutation*
DOI
10.1016/j.ymgme.2004.11.002
PMID
15781199
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
AJOU Authors
정, 조원박, 준은김, 성환황, 진순
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