Am. J. Hum. Genet. 55:42-50, 1994
Clustering of Mutations in Methylmalonyl CoA Mutase Associated with mut- Methylmalonic Acidemia
Ana Maria Crane' and Fred D. Ledley" 2
'Departments of Cell Biology and Pediatrics, Baylor College of Medicine, and 2GeneMedicine, Inc., Houston
Summary Mutations have been described in human methylmalonyl CoA mutase (MCM) that exhibit partial defects in enzyme activity, including cobalamin-dependent (i.e., muC) or interallelic complementation. This work describes…
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