Literature DB >> 18703314

Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type.

Taro Masaki, Ryusuke Ono, Miki Tanioka, Yoko Funasaka, Tohru Nagano, Shinichi Moriwaki, Chikako Nishigori.   

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Year:  2008        PMID： 18703314     DOI： 10.1016/j.jdermsci.2008.07.001

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  6 in total

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

Authors:  Mariem Ben Rekaya; Olfa Messaoud; Amel Mebazaa; Olfa Riahi; Hela Azaiez; Rim Kefi; Mohamed Zghal; Samir Boubaker; Ahlem Amouri; Amel Ben Osman-Dhahri; Sonia Abdelhak; Mourad Mokni
Journal:  J Genet       Date:  2011-12       Impact factor: 1.166

2.  Founder mutations in xeroderma pigmentosum.

Authors:  Deborah Tamura; John J DiGiovanna; Kenneth H Kraemer
Journal:  J Invest Dermatol       Date:  2010-06       Impact factor: 8.551

3.  A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.

Authors:  Yassamine Doubaj; Wiam Smaili; Fatima-Zahra Laarabi; Abdelaziz Sefiani
Journal:  J Med Case Rep       Date:  2017-06-15

4.  Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.

Authors:  Xiaoyan Liu; Xianning Zhang; Jianjun Qiao; Hong Fang
Journal:  Int J Med Sci       Date:  2013-04-21       Impact factor: 3.738

5.  A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.

Authors:  Mariem Ben Rekaya; Nadia Laroussi; Olfa Messaoud; Mariem Jones; Manel Jerbi; Chokri Naouali; Yosra Bouyacoub; Mariem Chargui; Rym Kefi; Becima Fazaa; Mohamed Samir Boubaker; Hamouda Boussen; Mourad Mokni; Sonia Abdelhak; Mohamed Zghal; Aida Khaled; Houda Yacoub-Youssef
Journal:  Biomed Res Int       Date:  2014-05-04       Impact factor: 3.411

6.  Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Authors:  Nadège Calmels; Géraldine Greff; Cathy Obringer; Nadine Kempf; Claire Gasnier; Julien Tarabeux; Marguerite Miguet; Geneviève Baujat; Didier Bessis; Patricia Bretones; Anne Cavau; Béatrice Digeon; Martine Doco-Fenzy; Bérénice Doray; François Feillet; Jesus Gardeazabal; Blanca Gener; Sophie Julia; Isabel Llano-Rivas; Artur Mazur; Caroline Michot; Florence Renaldo-Robin; Massimiliano Rossi; Pascal Sabouraud; Boris Keren; Christel Depienne; Jean Muller; Jean-Louis Mandel; Vincent Laugel
Journal:  Orphanet J Rare Dis       Date:  2016-03-22       Impact factor: 4.123
  6 in total

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