Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)
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چکیده
منابع مشابه
Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).
AIM To investigate genetic heterogeneity within the cblA class of inborn error of cobalamin metabolism. CONTEXT The cblA disorder is characterised by vitamin B12 (cobalamin) responsive methylmalonic aciduria and deficient synthesis of adenosylcobalamin, required for activity of the mitochondrial enzyme methylmalonyl CoA mutase. The cblA gene has not been identified or cloned. We have previous...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2000
ISSN: 1468-6244
DOI: 10.1136/jmg.37.7.510