Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

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Beesley CE, Young EP, Vellodi A, Winchester BG

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

J Med Genet. 2000 Sep;37(9):704-7. doi: 10.1136/jmg.37.9.704.

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11182930 [ View in PubMed
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Polypeptides
NameUniProt ID
N-sulphoglucosamine sulphohydrolaseP51688Details