Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease.
Choy
F Y M
FY
Vaags
A
A
Wong
K
K
Macgregor
D
D
Fernandez
B
B
Prasad
C
C
D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D005260:Female; D005776:Gaucher Disease / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D012150:Polymorphism, Restriction Fragment Length