Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease

Br J Dermatol. 2017 Jan;176(1):270-274. doi: 10.1111/bjd.14914. Epub 2016 Sep 24.

N J Wilson¹, C Cole^{1

2}, K Kroboth¹, W N Hunter³, J A Mann^{4

5}, W H I McLean¹, K Kernland Lang⁶, H Beltraminelli⁶, R A Sabroe⁷, N Tiffin⁸, G J Sobey⁹, L Borradori⁶, E Simpson⁴, F J D Smith^{1

10}

¹ Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
² Division of Computational Biology, School of Life Sciences, University of Dundee, Dundee, U.K.
³ Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
⁴ Department of Dermatology, Oregon Health & Sciences University, Portland, OR, U.S.A.
⁵ Division of Dermatology, Dartmouth-Hitchcock Medical Center, Lebanon, NH, U.S.A.
⁶ Department of Dermatology, University Hospital-Inselspital Bern, University of Bern, Bern, Switzerland.
⁷ Department of Dermatology, Royal Hallamshire Hospital, Sheffield, U.K.
⁸ Department of Histopathology, Royal Hallamshire Hospital, Sheffield, U.K.
⁹ Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, U.K.
¹⁰ Pachyonychia Congenita Project, Salt Lake City, UT, U.S.A.

No abstract available

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