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

Ahlem Amouri; Amel Ben Osman-Dhahri; Amel Mebazaa; Hela Azaiez; Mariem Ben Rekaya; Mohamed Zghal; Mourad Mokni; Olfa Messaoud; Olfa Riahi; Rim Kefi; Samir Boubaker; Sonia Abdelhak1

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

机译：色皮病-V突尼斯患者中的新型POLH基因突变：表型与基因型相关

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来源
《Journal of genetics》 |2011年第3期|共页
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Ahlem Amouri; Amel Ben Osman-Dhahri; Amel Mebazaa; Hela Azaiez; Mariem Ben Rekaya; Mohamed Zghal; Mourad Mokni; Olfa Messaoud; Olfa Riahi; Rim Kefi; Samir Boubaker; Sonia Abdelhak1;
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中图分类遗传学;
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1. A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: Phenotype-genotype correlation [J] . Rekaya M.B., Messaoud O., Mebazaa A., Journal of genetics . 2011,第3期

机译：色皮病-V突尼斯患者中的新型POLH基因突变：表型与基因型的相关性
2. A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: Phenotype-genotype correlation [J] . Rekaya M.B., Messaoud O., Mebazaa A., Journal of genetics . 2011,第3期

机译：色皮病-V突尼斯患者中的新型POLH基因突变：表型与基因型的相关性
3. A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype–genotype correlation [J] . MARIEM BEN REKAYA, OLFA MESSAOUD, AMEL MEBAZAA, Journal of Genetics . 2011,第3期

机译：干燥皮肤色素V型突尼斯患者中的新型POLH基因突变：表型与基因型的相关性
4. GENOTYPE-PHENOTYPE CORRELATION IN PATIENTS WITH FIBRILLIN-1 GENE MUTATIONS [C] . Christian Baumgartner, Daniela Baumgartner, Martin Eberle, Biomedical Engineering . 2005

机译：Fibrillin-1基因突变患者的基因型与表型相关性
5. The implications of molecular diagnostics in clinicopathologic correlations in two disease processes: PSA serum levels in acute illnesses, and, prevalence of activated protein C resistance and factor V mutation in patients with thrombosis and in control patients by ethnic group. [D] . Honda, Stacey Ann Akemi. 2002

机译：分子诊断在两种疾病过程中的临床病理相关性中的意义：急性疾病中PSA血清水平，以及血栓形成患者和对照患者（按种族）的活化蛋白C抗性和因子V突变的患病率。
6. High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. [O] . C Nishigori, M Zghal, T Yagi, 1993

机译：突尼斯干燥皮肤色素A组A患者补充性皮肤干燥色素A组（XPAC）基因外显子6点突变的普遍性。
7. Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients [O] . Giovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Érika Maria Monteiro Santos, 2013

机译：巴西FAP，AFAP和MAP患者的APC和MUTYH基因突变谱及基因型与表型的相关性

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

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