Zobrazeno 1 - 2
of 2
pro vyhledávání: '"María Micaela Carcione"'
Autor:
Marcela Maria Ferrer, Florencia Giliberto, Irene Szijan, María Micaela Carcione, Chiara Mazzanti, Leonela Natalia Luce
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical diagnosis, identify candidates f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee85e19ce00931deca2b1cea1ec920fb
https://www.sciencedirect.com/science/article/pii/S0960896618301202
https://www.sciencedirect.com/science/article/pii/S0960896618301202
Autor:
María Micaela Carcione, Carlos Daniel de Brasi, Liliana Francipane, Julián Nevado, Pablo Lapunzina, Irena Szijan, Leonela Natalia Luce, Miguel Martin Abelleyro, Chiara Mazzanti, Liliana Carmen Rossetti, Florencia Giliberto, Sebastián Menazzi, Claudia Pamela Radic
Publikováno v:
Neuromuscular Disorders. 29:S170-S171
Fil: Luce, Leonela Natalia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Microbiologia, Inmunologia y Biotecnologia. Catedra de Genetica y Biologia Molecular; Argentina. Consejo Nacional de Investigaciones Cientific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7dc4e4ed65732175db55cd16f1df70b2
https://doi.org/10.1016/j.nmd.2019.06.468
https://doi.org/10.1016/j.nmd.2019.06.468
