The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

Human mutation

Volumn 29, Issue 5, 2008, Pages 770-

  Meyer, Ann ^a   Kossow, Kai ^a   Gal, Andreas ^a   Steglich, Cordula ^a   Mühlhausen, Chris ^a   Ullrich, Kurt ^a   Braulke, Thomas ^a   Muschol, Nicole ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROLASE; N SULFOGLUCOSAMINE SULFOHYDROLASE; N-SULFOGLUCOSAMINE SULFOHYDROLASE; PROLINE; SERINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; DISEASE COURSE; FEMALE; GENETICS; GENOTYPE; HUMAN; INFANT; MALE; MUTATION; NEWBORN; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; SANFILIPPO SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; GENOTYPE; HUMANS; HYDROLASES; INFANT; INFANT, NEWBORN; MALE; MUCOPOLYSACCHARIDOSIS III; MUTATION; PHENOTYPE; PROLINE; SERINE;

MLCS; MLOWN;

EID: 49849105437     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.20738     Document Type: Article

References (0)