Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.
Goebl
April
A
Department of Biology, University of Victoria, Victoria, British Columbia, V8W 3N5 Canada.
Ferrier
Raechel A
RA
Ferreira
Patrick
P
Pinto-Rojas
Alfredo
A
Matshes
Evan
E
Choy
Francis Y M
FY