Condition: GAUCHER DISEASE, PERINATAL LETHAL
rs121908310
in
GBA
gene and
GAUCHER DISEASE, PERINATAL LETHAL
PMID 11933202
2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
PMID 10352942
1999 Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?