Title : Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Pub. Date : 2009 May

PMID : 19306334






1 Functional Relationships(s)
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1 Finally, although most PC mutations are suggested to interfere with biotin metabolism, none of the PC-deficient patients was biotin-responsive. Biotin pyruvate carboxylase Homo sapiens