Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population

Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No B...

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Bibliographic Details
Main Authors: Karina Miranda Santiago, Amanda França de Nóbrega, Rafael Malagoli Rocha, Silvia Regina Rogatto, Maria Isabel Achatz
Format: Article
Language:English
Published: MDPI AG 2015-04-01
Series:International Journal of Molecular Sciences
Subjects:
xeroderma pigmentosum syndrome
XPA gene
skin cancer
neurodegeneration
Online Access:http://www.mdpi.com/1422-0067/16/4/8988

Internet

http://www.mdpi.com/1422-0067/16/4/8988

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