Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
Beesley
C E
CE
Young
E P
EP
Vellodi
A
A
Winchester
B G
BG
D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D009084:Mucopolysaccharidosis III / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion
D004247:DNA; D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase