Cloned (Comment) | Organism |
---|---|
genotyping of Hungarian population, the most common biotinidase variant alleles are higher in the Hungarian population than in other Caucasian populations | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A171T/D444H | naturally occuring mutation involved in BTD deficiency in Hungarian patients | Homo sapiens |
D444H | naturally occuring mutation involved in BTD deficiency in Hungarian patients | Homo sapiens |
additional information | c.98_104del7 insTCC is a naturally occuring truncation mutation involved in BTD deficiency | Homo sapiens |
Q456H | naturally occuring mutation involved in BTD deficiency in Hungarian patients | Homo sapiens |
R538C | naturally occuring mutation involved in BTD deficiency in Hungarian patients | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Hungarian population | - |
Synonyms | Comment | Organism |
---|---|---|
BTD | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | biotinidase deficiency, an autosomal recessively inherited disorder, is characterized by neurologic and cutaneous symptoms and can be detected by newborn screening | Homo sapiens |