The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Meyer A.; Kossow K.; Gal A.; Steglich C.; Muehlhausen C.; Ullrich K.; Braulke T.; Muschol N.;
Hum. Mutat. 29:770-770(2008)
Cited for: VARIANTS MPS3A GLU-32; CYS-74; HIS-245; ALA-251 AND PRO-298; ASSOCIATION OF VARIANT MPS3A PRO-298 WITH SLOWLY PROGRESSIVE PHENOTYPE;
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
Muschol N.; Pohl S.; Meyer A.; Gal A.; Ullrich K.; Braulke T.;
Am. J. Med. Genet. A 155A:1634-1639(2011)
Cited for: VARIANTS MPS3A TRP-66; CYS-74; HIS-245; ALA-251 AND PRO-298; CHARACTERIZATION OF VARIANT MPS3A PRO-298;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.