Clinical utility gene card for: Biotinidase deficiency


1.5 Mutational spectrum Biotinidase deficiency is inherited as an autosomal recessive trait; as expected, the vast majority of mutations are homozygous or compound heterozygous. A total of 140 mutations have been reported so far. All types of alterations have been observed: missense, nonsense, splice-site, and frameshift mutations.2 However, no large… (More)
DOI: 10.1038/ejhg.2012.28


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