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Article

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

Human mutation - 1 Jan 1997

Bunge S, Ince H, Steglich C, Kleijer W J, Beck M, Zaremba J, van Diggelen O P, Weber B, Hopwood J J, Gal A

Abstract excerpt

Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42 European patients. Sixteen of the 17 different gene mutations characterized have not been previously described. The spectrum of gene lesions consists...

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PMID: 9401012
DOI: 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).PMID 9401012Read ↗

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