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A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report

BACKGROUND: Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been associated to this disorder. Based on the result of many stud...

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Detalles Bibliográficos
Autores principales:	Doubaj, Yassamine, Smaili, Wiam, Laarabi, Fatima-Zahra, Sefiani, Abdelaziz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471900/ https://www.ncbi.nlm.nih.gov/pubmed/28615033 http://dx.doi.org/10.1186/s13256-017-1311-6

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