Condition: Gaucher Disease, Type 3 (disorder)


rs121908310 in GBA gene and Gaucher Disease, Type 3 (disorder) PMID 8780099 1996 Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.

PMID 11933202 2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

PMID 24022302 2014 Functional analysis of 11 novel GBA alleles.