A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.
Molecular Investigation of Genetic Orphan Diseases Research Unit, Pasteur Institute of Tunis, 13 Place Pasteur, BP 74, 1002 Tunis Belvedere, Tunisia.
Mariem
M
Ben Rekaya
Olfa
O
Messaoud
Amel
A
Mebazaa
Olfa
O
Riahi
Hela
H
Azaiez
Rim
R
Kefi
Mohamed
M
Zghal
Samir
S
Boubaker
Ahlem
A
Amouri
Amel
A
Ben Osman-Dhahri
Sonia
S
Abdelhak
Mourad
M
Mokni
D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000235:genetics / Q000473:pathology; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology; D014416:Tunisia; D014983:Xeroderma Pigmentosum / Q000235:genetics* / Q000473:pathology; D000099270:Y-Family DNA Polymerases
D004259:DNA-Directed DNA Polymerase; C112338:Rad30 protein; D000099270:Y-Family DNA Polymerases