Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation. [electronic resource]
- Journal of tropical pediatrics Dec 2007
- 434-7 p. digital
Publication Type: Case Reports; Journal Article
0142-6338
10.1093/tropej/fmm056 doi
Black People--genetics Child Codon, Nonsense Glycoproteins--genetics Humans Male Mucopolysaccharidosis II--diagnostic imaging Radiography Siblings