Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.
Goebl A, Ferrier RA, Ferreira P, Pinto-Rojas A, Matshes E, Choy FY. Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations. Pediatr Dev Pathol. 2011 May-Jun; 14(3):240-3.