A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

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Wu JY, Yang CF, Lee CC, Chang JG, Tsai FJ

A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

Hum Mutat. 2000 Apr;15(4):389-90. doi: 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU31>3.0.CO;2-0.

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10738004 [ View in PubMed
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Polypeptides
NameUniProt ID
Arylsulfatase BP15848Details