Literature DB >> 26743599

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.

Mieran Sethi1, Shaheen Haque2, Heather Fawcett3, Jonathan F Wing3, Natalie Chandler4, Shehla Mohammed4, Ian M Frayling5, Paul G Norris2, David McGibbon6, Antony R Young7, Robert P E Sarkany6, Alan R Lehmann3, Hiva Fassihi8.   

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Year:  2015        PMID： 26743599     DOI： 10.1016/j.jid.2015.12.031

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  2 in total

1.  Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Authors:  Hiva Fassihi; Mieran Sethi; Heather Fawcett; Jonathan Wing; Natalie Chandler; Shehla Mohammed; Emma Craythorne; Ana M S Morley; Rongxuan Lim; Sally Turner; Tanya Henshaw; Isabel Garrood; Paola Giunti; Tammy Hedderly; Adesoji Abiona; Harsha Naik; Gemma Harrop; David McGibbon; Nicolaas G J Jaspers; Elena Botta; Tiziana Nardo; Miria Stefanini; Antony R Young; Robert P E Sarkany; Alan R Lehmann
Journal:  Proc Natl Acad Sci U S A       Date:  2016-02-16       Impact factor: 11.205

2.  Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.

Authors:  Mariangela Sabatella; Arjan F Theil; Cristina Ribeiro-Silva; Jana Slyskova; Karen Thijssen; Chantal Voskamp; Hannes Lans; Wim Vermeulen
Journal:  Nucleic Acids Res       Date:  2018-10-12       Impact factor: 16.971
  2 in total

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