Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by severe sensitivity of skin to sunlight and an increased risk of skin cancer. XP variant (XPV), a milder subtype, is caused by variants in the POLH gene. POLH encodes an error-prone DNA-polymerase eta (pol eta)...

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Detalles Bibliográficos
Autores principales: Zamani, Ghazala Y., Khan, Ranjha, Karim, Noreen, Ahmed, Zubair M., Naeem, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955859/
https://www.ncbi.nlm.nih.gov/pubmed/35328096
http://dx.doi.org/10.3390/genes13030543

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955859/
https://www.ncbi.nlm.nih.gov/pubmed/35328096
http://dx.doi.org/10.3390/genes13030543

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