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

✍ Scribed by Xiaolian Fan; Huiwen Zhang; Sunqu Zhang; Richard Bagshaw; Michael Tropak; John Callahan; Don Mahuran


Book ID
116988064
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
57 KB
Volume
92
Category
Article
ISSN
1096-7192

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## Communicated by JΓΌrgen Horst 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