Gene: [00.0/ASAH] N-acylsphingosine amidohydrolase; Farber lipogranulomatosis (ceramidase deficiency);
|
MUT |
In a patient with Farber disease, Koch-1996 identified point mutations in this gene." |
|
REF |
CLO,SEQ,MUT "Koch J &: JBC, 271, 33110-33115, 1996 |
|
CLA |
coding, basic |
|
LOC |
RS |
|
MIM |
MIM: 228000 |
|
EZN |
ENZYME: 3.5.1.23 |
