Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1.
Concolino
D
D
Mussari
A
A
Filocamo
M
M
Strisciuglio
P
P
D000483:Alleles; D019943:Amino Acid Substitution; D002648:Child; D005091:Exons / Q000235:genetics; D005776:Gaucher Disease / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D005962:Glucosylceramidase / Q000737:chemistry / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D007558:Italy; D008297:Male; D020125:Mutation, Missense; D010146:Pain / Q000235:genetics; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D022821:RNA Splice Sites / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics
D022821:RNA Splice Sites; D005962:Glucosylceramidase