Profound Biotinidase Deficiency Caused by a Point Mutation That Creates a Downstream Cryptic 3′ Splice Acceptor Site Within an Exon of the Human Biotinidase Gene

Biotinidase recycles the vitamin biotin from biocytin upon the degradation of the biotin-dependent carboxylases. We have identified a novel point mutation within the biotinidase gene that encodes the signal peptide in two unrelated individuals with profound biotinidase deficiency. Sequence analysis...

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