Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.
M F
MF
Coutinho
L
L
Lacerda
M J
MJ
Prata
H
H
Ribeiro
L
L
Lopes
C
C
Ferreira
S
S
Alves
D000123:Acetyltransferases / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D017720:Molecular Epidemiology; D009084:Mucopolysaccharidosis III / Q000235:genetics*; D009154:Mutation; D017354:Point Mutation; D011174:Portugal; D022821:RNA Splice Sites / Q000235:genetics
D022821:RNA Splice Sites; D000123:Acetyltransferases; C514442:HGSNAT protein, human