Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Virginie Commere"'
Autor:
Niloufar Kavian, Fatma Daoud, Nathalie Deburgrave, Caroline Beugnet, Jamel Chelly, Aurélie Vasson, Jean Claude Kaplan, Stéphane Llense, Madiha Trabelsi, Jean Claude Barbot, Virginie Commere
Publikováno v:
European Journal of Human Genetics. 16:793-803
To define the spectrum of mutations in alpha-, beta-, gamma-, and delta-sarcoglycan (SG) genes, we analyzed these genes in 69 probands with clinical and biological criteria compatible with the diagnosis of autosomal recessive limb-girdle muscular dys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9000827b13eba487d71ccdd17d62050
https://doi.org/10.1038/ejhg.2008.9
https://doi.org/10.1038/ejhg.2008.9
Autor:
Aurélie Vasson, Céline Leroux, Lucie Orhant, Mathieu Boimard, Aurélie Toussaint, Chrystel Leroy, Virginie Commere, Tiffany Ghiotti, Nathalie Deburgrave, Yoann Saillour, Isabelle Atlan, Corinne Fouveaut, Cherif Beldjord, Sophie Valleix, France Leturcq, Catherine Dodé, Thierry Bienvenu, Jamel Chelly, Mireille Cossée
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2013, 21 (9), pp.977-987. ⟨10.1038/ejhg.2012.279⟩
European Journal of Human Genetics; Vol 21
European Journal of Human Genetics, Nature Publishing Group, 2013, 21 (9), pp.977-987. ⟨10.1038/ejhg.2012.279⟩
European Journal of Human Genetics; Vol 21
International audience; he frequency of disease-related large rearrangements (referred to as copy-number mutations, CNMs) varies among genes, and search for these mutations has an important place in diagnostic strategies. In recent years, CGH method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee11b1d4c6797c9bd29cbc374e21bfa0
https://hal.umontpellier.fr/hal-02441701
https://hal.umontpellier.fr/hal-02441701
