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Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva

Although inherited GJA1 (encoding Cx43) gene mutations most often lead to oculodentodigital dysplasia and related disorders, four variants have been linked to erythrokeratodermia variabilis et progressiva (EKVP), a skin disorder characterized by erythematous and hyperkeratotic lesions. While two aut...

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Detalles Bibliográficos
Autores principales:	Lucaciu, Sergiu A., Shao, Qing, Figliuzzi, Rhett, Barr, Kevin, Bai, Donglin, Laird, Dale W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8745721/ https://www.ncbi.nlm.nih.gov/pubmed/35008913 http://dx.doi.org/10.3390/ijms23010486

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