𝔖 Bobbio Scriptorium
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A common mutation among blacks with mut− methylmalonic aciduria

✍ Scribed by Charles E. Adjalla; Angela R. Hosack; Nora V. Matiaszuk; David S. Rosenblatt

Book ID
102262443
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
313 KB
Volume
11
Category
Article
ISSN
1059-7794

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Cobalamin nonresponsive methylmalonic acidemia (MMA, mut complementation class) results from mutations in the nuclear gene MUT, which codes for the mitochondrial enzyme methylmalonyl CoA mutase (MCM). To better elucidate the spectrum of mutations that cause MMA, the MUT gene was sequenced in 160 pat