A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation

J Genet. 2011 Dec;90(3):483-7. doi: 10.1007/s12041-011-0101-y.

Authors

Mariem Ben Rekaya¹, Olfa Messaoud, Amel Mebazaa, Olfa Riahi, Hela Azaiez, Rim Kefi, Mohamed Zghal, Samir Boubaker, Ahlem Amouri, Amel Ben Osman-Dhahri, Sonia Abdelhak, Mourad Mokni

Affiliation

¹ Molecular Investigation of Genetic Orphan Diseases Research Unit, Pasteur Institute of Tunis, 13 Place Pasteur, BP 74, 1002 Tunis Belvedere, Tunisia.

PMID: 22227937
DOI: 10.1007/s12041-011-0101-y

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Carcinoma, Squamous Cell / genetics
Carcinoma, Squamous Cell / pathology
DNA-Directed DNA Polymerase / genetics*
Genetic Association Studies*
Humans
Male
Mutation*
Pedigree
Skin Neoplasms / genetics
Skin Neoplasms / pathology
Tunisia
Xeroderma Pigmentosum / genetics*
Xeroderma Pigmentosum / pathology

Substances

DNA-Directed DNA Polymerase
Rad30 protein