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

被引：0

作者：

Ben Rekaya, Mariem ^{[1
]}

Messaoud, Olfa ^{[1
]}

Mebazaa, Amel ^{[3
,4
]}

Riahi, Olfa ^{[3
,4
]}

Azaiezi, Hela ^{[1
]}

Kefi, Rim ^{[1
]}

Zghal, Mohamed ^{[5
]}

Boubaker, Samir ^{[2
]}

Amouri, Ahlem ^{[1
]}

Ben Osman-Dhahri, Amel ^{[4
]}

Abdelhak, Sonia ^{[1
]}

Mokni, Mourad ^{[3
,4
]}

机构：

[1] Pasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis 1002, Tunisia

[2] Pasteur Inst Tunis, Anatomopathol Dept, Tunis 1002, Tunisia

[3] La Rabta Hosp Tunis, Study Hereditary Keratinizat Disorders Res Unit, Tunis 1007, Tunisia

[4] La Rabta Hosp Tunis, Dept Dermatol, Tunis 1007, Tunisia

[5] Habib Thameur Hosp, Dept Dermatol, Tunis 1008, Tunisia

来源：

JOURNAL OF GENETICS | 2011年 / 90卷 / 03期

关键词：

xeroderma pigmentosum-V; late-onset phenotype; novel mutation; phenotype-genotype correlation; DNA-POLYMERASE-ETA; MOLECULAR ANALYSIS; JAPANESE PATIENTS; VARIANT PATIENTS; GROUP-A; REPAIR; IRRADIATION; EUROPE;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：483 / 487

页数：5

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