Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.
Pomponio
R J
RJ
Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond 23298, USA.
Ozand
P T
PT
Al Essa
M
M
Wolf
B
B
D000483:Alleles; D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics*; D001710:Biotin / Q000378:metabolism; D043523:Biotinidase; D002675:Child, Preschool; D004247:DNA / Q000032:analysis / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012529:Saudi Arabia; D017384:Sequence Deletion / Q000235:genetics
D001710:Biotin; D004247:DNA; D000581:Amidohydrolases; D043523:Biotinidase