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A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Haghighi, A; Scott, CA; Poon, DS; Yaghoobi, R; Saleh-Gohari, N; Plagnol, V; Kelsell, DP; (2013) A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol , 133 (2) 571 - 573. 10.1038/jid.2012.289.

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Type: Article
Title: A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.
Location: United States
DOI: 10.1038/jid.2012.289
Language: English
Keywords: Chromosomes, Human, X, Family Health, Female, Humans, Keratoderma, Palmoplantar, Male, Metalloendopeptidases, Mutation, Missense, Pedigree, Syndrome
UCL classification: UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
URI: http://discovery.ucl.ac.uk/id/eprint/1371172
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