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;
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).
Lee-Chen G.J.; Lin S.P.; Ko M.H.; Chuang C.K.; Chen C.P.; Lee H.H.; Cheng S.C.; Shen C.H.; Tseng K.L.; Li C.L.;
Clin. Genet. 61:192-197(2002)
Cited for: VARIANTS MPS3A LYS-42; ASN-235; SER-293 AND CYS-377; VARIANT HIS-456; CHARACTERIZATION OF VARIANTS MPS3A LYS-42; ASN-235; SER-293 AND CYS-377; CHARACTERIZATION OF VARIANT HIS-456;
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