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  1. Research article

    The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

    Katalin Farkas, Barbara Kocsis Deák, Laura Cubells Sánchez, Ana Mercedes Victoria Martínez, Juan José Vilata Corell, Alfredo Montoro Botella, Goitzane Marcaida Benito, Raquel Rodríguez López, Tomas Vanecek, Dmitry V. Kazakov, Joan N. R. Kromosoeto, Ans M. W. van den Ouweland, János Varga, Márta Széll and Nikoletta Nagy

    Published on: 9 February 2016

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BMC Genetics publishes selected collections of research articles, conference proceedings, reviews and reports as supplements. While we build our new sites all supplements will be available here.

Aims and scope

BMC Genetics is an open access, peer-reviewed journal that considers articles on all aspects of inheritance and variation in individuals and among populations.

Section Editors

  • Federico Canzian, German Cancer Research Center (DKFZ)
  • Anna Malacrida, University of Pavia
  • Cesar Martins, UNESP - São Paulo State University, Brazil
  • Michele Morgante, Universita' di Udine
  • James Reecy, Iowa State University
  • Rongling Wu, Pennsylvania State University
  • Shuhua Xu, (CAS-MPG) Partner Institute for Computational Biology

Executive Editor

  • Julia Simundza, BioMed Central

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