Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

MPS IIIC was the only mucopolysaccharidosis for which the gene had not been cloned. This is no longer the case thanks to the recent identification of the causal gene by a group from Toronto, Canada.
Am J Hum Genet. 2006 Oct;79(4):738-44. Epub 2006 Aug 23.

Identification of the gene encoding the enzyme deficient in
mucopolysaccharidosis IIIC (Sanfilippo disease type C).

Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ.

For more information on mucopolysaccharidoses, please see chapter 136 of OMMBID.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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