Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East

We report a family from Tabuk, Saudi Arabia, previously screened for Acrodermatitis Enteropathica (AE), in which two siblings presented with typical features of acral dermatitis and a pustular eruption but differing severity. Affected members of our family carry a rare genetic variant, p.Gly512Trp i...

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Detalles Bibliográficos
Autores principales: Abu-Duhier, Faisel, Pooranachandran, Vivetha, McDonagh, Andrew J. G., Messenger, Andrew G., Cooper-Knock, Johnathan, Bakri, Youssef, Heath, Paul R., Tazi-Ahnini, Rachid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106946/
https://www.ncbi.nlm.nih.gov/pubmed/30174688
http://dx.doi.org/10.1155/2018/1284568

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106946/
https://www.ncbi.nlm.nih.gov/pubmed/30174688
http://dx.doi.org/10.1155/2018/1284568

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