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Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.

Mutesa, Léon

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

ISSN: 0142-6338

Standard No.: 10.1093/tropej/fmm056 doi

Subjects--Topical Terms:
Black People--genetics
Child
Codon, Nonsense
Glycoproteins--genetics
Humans
Male
Mucopolysaccharidosis II--diagnostic imaging
Radiography
Siblings

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