An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene.
Miyazaki
T
T
Masuda
N
N
Waragai
M
M
Motoyoshi
Y
Y
Kurokawa
K
K
Yuasa
T
T
D000328:Adult; D001483:Base Sequence / Q000235:genetics; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons; D015971:Gene Expression Regulation, Enzymologic / Q000502:physiology; D006580:Genetic Carrier Screening; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009084:Mucopolysaccharidosis III / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D016133:Polymerase Chain Reaction
D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase