Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8

Mucopolysaccharidosis type IIIC (MPS IIIC, or Sanfilippo syndrome C) is a rare lysosomal storage disorder caused by a deficiency of acetyl-coenzyme A:α-glucosaminide-N-acetyltransferase. Patients develop progressive neuropsychiatric problems, mental retardation, hearing loss, and relatively minor vi...

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Bibliografiske detaljer
Main Authors: Ausseil, J, Loredo-Osti, J, Verner, A, Darmond-Zwaig, C, Maire, I, Poorthuis, B, van Diggelen, O P, Hudson, T, Fujiwara, T, Morgan, K, Pshezhetsky, A
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2004
Fag:
Short Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735628/
https://ncbi.nlm.nih.gov/pubmed/15591281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.021501
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