Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
di Natale P.; Balzano N.; Esposito S.; Villani G.R.D.;
Hum. Mutat. 11:313-320(1998)
Cited for: VARIANTS MPS3A ASN-40; THR-44; TRP-66; CYS-74; ARG-122; LEU-128; PRO-146; GLN-150; ASN-179; CYS-182; ARG-227; LYS-369 AND CYS-377; VARIANTS ALA-226 AND HIS-456;
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
Beesley C.E.; Young E.P.; Vellodi A.; Winchester B.G.;
J. Med. Genet. 37:704-707(2000)
Cited for: VARIANTS MPS3A GLY-32; TRP-66; CYS-74; PRO-79; TYR-84; ARG-122; TRP-150; ASN-235; HIS-245; ASN-273; PRO-298; SER-322; LYS-355; HIS-374; GLN-ARG-381 INS; TRP-433; 436-TRP--LEU-438 DEL AND PHE-486; VARIANT HIS-456;
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;
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