Identification Of The Gene Encoding The Enzyme Deficient In Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C)

Authors:
Xiaolian Fan, Huiwen Zhang, Sunqu Zhang, Richard D. Bagshaw, Michael B. Tropak, John W. Callahan, and Don J. Mahuran

From the Research Institute, Metabolism Program, The Hospital for Sick Children (X.F.; H.Z.; S.Z.; R.D.B.; M.B.T.; J.W.C.; D.J.M.), and the Departments of Laboratory Medicine and Pathobiology (R.D.B.; D.J.M.) and Biochemistry (J.W.C.), University of Toronto, Toronto

Abstract:

Mucopolysaccharidosis IIIC (MPS IIIC), or Sanfilippo C, represents the only MPS disorder in which the responsible gene has not been identified; however, the gene has been localized to the pericentromeric region of chromosome 8……more…...

(C) American Journal of Human Genetics.

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