UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

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.

Full text not available from this repository.


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

Archive Staff Only: edit this record