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?