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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 enz...

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Detalhes bibliográficos
Main Authors: Watkins, D., Matiaszuk, N., Rosenblatt, D.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734625/
https://ncbi.nlm.nih.gov/pubmed/10882753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.7.510
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