Deleterious mutations in exon 1 of MECP2 in Rett syndrome

Autor: Christophe Philippe, François Rivier, Michèle Mathieu, Saliha Yilmaz, Thierry Bienvenu, Aline Quenard, Vincent des Portes, Anne Moncla, Philippe Jonveaux, Hervé Fontaine, G Raux

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, 2006, 49 (4), pp.313-22. ⟨10.1016/j.ejmg.2005.11.002⟩
European Journal of Medical Genetics, Elsevier, 2006, 49 (4), pp.313-22. ⟨10.1016/j.ejmg.2005.11.002⟩
European Journal of Medical Genetics, Elsevier, 2006, 49 (4), pp.313-22. 〈10.1016/j.ejmg.2005.11.002〉

International audience; The MECP2 gene is responsible for 80-85% of typical cases of Rett syndrome with deleterious mutations affecting exons 3 and 4. Recently, an alternate transcript including exon 1 was discovered with a new protein isoform (MeCP2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29c7622ae79da0de262556cc22a2840b
https://doi.org/10.1016/j.ejmg.2005.11.002