Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

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Clarke LA, Scott HS

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

Hum Mol Genet. 1993 Aug;2(8):1311-2.

PubMed ID
8401515 [ View in PubMed
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Polypeptides
NameUniProt ID
Alpha-L-iduronidaseP35475Details