Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.
Coutinho
M F
MF
Lacerda
L
L
Prata
M J
MJ
Ribeiro
H
H
Lopes
L
L
Ferreira
C
C
Alves
S
S
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