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GENATLAS PHENOTYPE |
last update : 3/07/2006 |
Symbol | GALK1D |
Location | 17q24 |
Name | galactosemia, type 2 |
Other name(s) | galactokinase deficiency |
Corresponding gene | GALK1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/carbohydrates |
eye | |
Type | disease |
Gene product |
Name | galactokinase 1 (GALK1), |
Remark(s) |