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1. Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.

Author

Pomponio RJ, Ozand PT, Al Essa M, and Wolf B

Subjects
Alleles, Biotin metabolism, Biotinidase, Child, Preschool, DNA analysis, DNA genetics, Humans, Infant, Infant, Newborn, Molecular Sequence Data, Mutation, Missense genetics, Reverse Transcriptase Polymerase Chain Reaction, Saudi Arabia, Sequence Deletion genetics, Amidohydrolases deficiency, Amidohydrolases genetics, Mutation genetics
Published
2000
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