Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H), sarcotubular myopathies (STM) and in Bardet-Biedl syndrome. Few cases have been described to date in LGMD2H/STM, but this gene is not systematically analysed because of the absence of specific signs and difficulties...

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מידע ביבליוגרפי
הוצא לאור ב:Eur J Hum Genet
Main Authors: Nectoux, Juliette, de Cid, Rafael, Baulande, Sylvain, Leturcq, France, Urtizberea, Jon Andoni, Penisson-Besnier, Isabelle, Nadaj-Pakleza, Aleksandra, Roudaut, Carinne, Criqui, Audrey, Orhant, Lucie, Peyroulan, Delphine, Ben Yaou, Raba, Nelson, Isabelle, Cobo, Anna Maria, Arné-Bes, Marie-Christine, Uro-Coste, Emmanuelle, Nitschke, Patrick, Claustres, Mireille, Bonne, Gisèle, Lévy, Nicolas, Chelly, Jamel, Richard, Isabelle, Cossée, Mireille
פורמט: Artigo
שפה:Inglês
יצא לאור: Nature Publishing Group 2015
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Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4463509/
https://ncbi.nlm.nih.gov/pubmed/25351777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.223
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