Biotinidase mutational "hotspot'.
Gordon
A
A
D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics*; D043523:Biotinidase; D003550:Cystic Fibrosis / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D017384:Sequence Deletion
D000581:Amidohydrolases; D043523:Biotinidase