Literature DB >> 23683512

Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.

Laia Alsina1, Eva González-Roca2, María Teresa Giner1, Mónica Piquer1, Irene Puga3, Mariona Pascal2, Estibaliz Ruiz-Ortiz2, Isabel Badell4, María Anunciación Martín-Mateos1, Andrea Cerutti3, Manel Juan2, Jordi Yagüe2, Ana M Plaza1, Juan I Aróstegui5.   

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Year:  2013        PMID： 23683512     DOI： 10.1016/j.jaci.2013.03.038

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  5 in total

1.  Using whole-exome sequencing to identify variants inherited from mosaic parents.

Authors:  Jonathan J Rios; Mauricio R Delgado
Journal:  Eur J Hum Genet       Date:  2014-07-02       Impact factor: 4.246

Review 2.  Advances in basic and clinical immunology in 2013.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

3.  A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.

Authors:  Wenjun Mou; Jianxin He; Xi Chen; Hui Zhang; Xiaoya Ren; Xunyao Wu; Xin Ni; Baoping Xu; Jingang Gui
Journal:  Immunogenetics       Date:  2016-08-26       Impact factor: 2.846

Review 4.  Exome and genome sequencing for inborn errors of immunity.

Authors:  Isabelle Meyts; Barbara Bosch; Alexandre Bolze; Bertrand Boisson; Yuval Itan; Aziz Belkadi; Vincent Pedergnana; Leen Moens; Capucine Picard; Aurélie Cobat; Xavier Bossuyt; Laurent Abel; Jean-Laurent Casanova
Journal:  J Allergy Clin Immunol       Date:  2016-10       Impact factor: 10.793

5.  A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.

Authors:  Barbara Zapała; Teresa Płatek; Iwona Wybrańska
Journal:  Ann Hum Genet       Date:  2015-03-16       Impact factor: 1.670
  5 in total

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