Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

J Dermatol Sci

St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Electronic address:

Published: February 2018

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http://dx.doi.org/10.1016/j.jdermsci.2017.11.012	DOI Listing

Publication Analysis

homozygous acceptor

acceptor splice

splice site

site mutation

mutation dsg1

dsg1 disrupts

disrupts plakoglobin

plakoglobin localization

localization keratoderma

keratoderma skin

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