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

Journal of Genetics

Volumn 90, Issue 3, 2011, Pages 483-487

  Rekaya, Mariem Ben ^a   Messaoud, Olfa ^a   Mebazaa, Amel ^b   Riahi, Olfa ^b   Azaiez, Hela ^a   Kefi, Rim ^a   Zghal, Mohamed ^c   Boubaker, Samir ^a   Amouri, Ahlem ^a   Osman Dhahri, Amel Ben ^b   Abdelhak, Sonia ^a   Mokni, Mourad ^b  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b LA RABTA HOSPITAL   (Tunisia)

^c HABIB THAMEUR HOSPITAL   (Tunisia)

Author keywords

late onset phenotype; novel mutation; phenotype genotype correlation; xeroderma pigmentosum V

Indexed keywords

DNA DIRECTED DNA POLYMERASE; DNA DIRECTED DNA POLYMERASE ETA;

AGED; ARTICLE; CASE REPORT; GENETIC ASSOCIATION; GENETICS; HUMAN; MALE; MUTATION; PATHOLOGY; PEDIGREE; SKIN TUMOR; SQUAMOUS CELL CARCINOMA; TUNISIA; XERODERMA PIGMENTOSUM;

AGED; CARCINOMA, SQUAMOUS CELL; DNA-DIRECTED DNA POLYMERASE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUTATION; PEDIGREE; SKIN NEOPLASMS; TUNISIA; XERODERMA PIGMENTOSUM;

EID: 84860247678     PISSN: 00221333     EISSN: 09737731     Source Type: Journal    
DOI: 10.1007/s12041-011-0101-y     Document Type: Article

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