A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.
作者信息
Ben Rekaya Mariem, Messaoud Olfa, Mebazaa Amel, Riahi Olfa, Azaiez Hela, Kefi Rim, Zghal Mohamed, Boubaker Samir, Amouri Ahlem, Ben Osman-Dhahri Amel, Abdelhak Sonia, Mokni Mourad
机构信息
Molecular Investigation of Genetic Orphan Diseases Research Unit, Pasteur Institute of Tunis, 13 Place Pasteur, BP 74, 1002 Tunis Belvedere, Tunisia.
出版信息
J Genet. 2011 Dec;90(3):483-7. doi: 10.1007/s12041-011-0101-y.
PMID:22227937
Abstract
摘要
Zotero 插件