Literature DB >> 16882192

A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda.

M H Muslumanoglu1, N Saracoglu, O Cilingir, T Basmaci, S Urer, I Sabuncu, S Demir, G Bademci, S Artan.   

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Year:  2006        PMID： 16882192     DOI： 10.1111/j.1365-2133.2006.07288.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  2 in total

1.  Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Authors:  Abida Akbar; Claire Prince; Chloe Payne; James Fasham; Wasim Ahmad; Emma L Baple; Andrew H Crosby; Gaurav V Harlalka; Asma Gul
Journal:  BMC Med Genet       Date:  2019-08-23       Impact factor: 2.103

2.  Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.

Authors:  Mbarka Bchetnia; Nadia Laroussi; Monia Youssef; Cherine Charfeddine; Ahlem Sabrine Ben Brick; Mohamed Samir Boubaker; Mourad Mokni; Sonia Abdelhak; Jameleddine Zili; Rym Benmously
Journal:  Biomed Res Int       Date:  2013-09-04       Impact factor: 3.411
  2 in total

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