Associated Papers
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.
Gabrielli O et al.
American Journal of Medical Genetics. Part A, 2005
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
Beesley CE et al.
Journal of Medical Genetics, 2000
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