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GENATLAS PHENOTYPE |
last update : 10/11/2005 |
Symbol | H |
Location | 19q13.3 |
Name | Bombay phenotype |
Other name(s) |
|
Corresponding gene | FUT1 , FUT2 |
Other symbol(s) | Hh |
Genetic determination | autosomal recessive |
Function/system disorder | hematology |
Type | disease |
Gene product |
Name | fucosyl transferase, T7256 mutation of FUT1 associated with a Alu-mediated large deletion of FUT2 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments | |
---|---|---|---|---|
various types | T7256 mutation of FUT1 associated with a Alu-mediated large deletion of FUT2 |