Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.
Barth M.L.; Fensom A.; Harris A.;
Hum. Mol. Genet. 2:2117-2121(1993)
Cited for: VARIANTS MLD VAL-212; VAL-224 AND TYR-295;
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
Gort L.; Coll M.J.; Chabas A.;
Hum. Mutat. 14:240-248(1999)
Cited for: VARIANTS MLD SER-32; PRO-68; TRP-84; ALA-94; VAL-99; SER-136; VAL-212; TYR-227; HIS-255; HIS-288; ASP-308; ILE-327 AND LEU-377; VARIANTS CYS-193; SER-350 AND SER-391;
Identification of nine novel arylsulfatase A (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
Eng B.; Nakamura L.N.; O'Reilly N.; Schokman N.; Nowaczyk M.M.J.; Krivit W.; Waye J.S.;
Hum. Mutat. 22:418-419(2003)
Cited for: VARIANTS MLD LEU-155; GLN-181; VAL-212; HIS-306; SER-325; VAL-335; LEU-426 AND SER-429;
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