Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.
Coulter-Mackie M.B.; Gagnier L.;
Hum. Mutat. Suppl. 1:S254-S256(1998)
Cited for: VARIANTS MLD GLN-390 AND TYR-397;
Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
Qu Y.; Shapira E.; Desnick R.J.;
Mol. Genet. Metab. 67:206-212(1999)
Cited for: VARIANTS MLD LEU-148; THR-191; VAL-335; TYR-397 AND LEU-426;
Molecular bases of metachromatic leukodystrophy in Polish patients.
Lugowska A.; Ploski R.; Wlodarski P.; Tylki-Szymanska A.;
J. Hum. Genet. 55:394-396(2010)
Cited for: VARIANTS MLD SER-179; SER-247; CYS-288; VAL-335; LYS-382; GLN-390; TRP-390; TYR-397 AND LEU-426;
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