Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

Keyphrases

• Mutational Hotspots 100%
• Biotinidase Deficiency 100%
• Biotinidase 100%
• Biotin 80%
• Biocytin 40%
• Lysine 40%
• Carboxylase 40%
• Symptomatic children 40%
• Autosomal Recessive 20%
• Signal Peptide 20%
• Normal Human 20%
• Common Cause 20%
• Amino Group 20%
• Neurological Injury 20%
• Complementary DNA (cDNA) 20%
• Inherited Disorders 20%
• Newborn Screening 20%
• Water-soluble B Vitamins 20%
• Endogenous Biotin 20%

Biochemistry, Genetics and Molecular Biology

• Biotinidase 100%
• Biotin 50%
• Lysine 30%
• Allele 10%
• Newborn Screening 10%
• Normal Human 10%
• Autosomal Recessive Inheritance 10%
• B Vitamin 10%
• Signal Peptide 10%