Cloned (Comment) | Organism |
---|---|
genotyping of biotinidase deficiency greek patient genes, real-time PCR | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
C186Y/D444H | naturally occuring mutation involved in biotinidase deficiency | Homo sapiens |
D444H | naturally occuring homozygous mutation involved in biotinidase deficiency | Homo sapiens |
D444H/Q456H | naturally occuring mutation involved in biotinidase deficiency | Homo sapiens |
D444H/T532M | naturally occuring mutation involved in biotinidase deficiency | Homo sapiens |
R157H/D444H | naturally occuring mutation involved in biotinidase deficiency | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P43251 | gene BTD | - |
General Information | Comment | Organism |
---|---|---|
malfunction | biotinidase deficiency (BTD) is an inherited disorder with severe clinical manifestations if not treated early | Homo sapiens |