Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Maria J, Aparisi"'
Autor:
Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V Cervera, Jose M Millan, Laia Pedrola
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0207296 (2018)
Nemaline Myopathy (NM) is a rare genetic disorder that encompasses a large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most freque
Externí odkaz:
https://doaj.org/article/4521699476574d809db35ed2954977bd
Autor:
Gema, García-García, Elena, Aller, Teresa, Jaijo, Maria J, Aparisi, Lise, Larrieu, Valérie, Faugère, Fiona, Blanco-Kelly, Carmen, Ayuso, Anne-Francoise, Roux, José M, Millán
Publikováno v:
Molecular Vision
Purpose The aim of the present work was to identify and characterize large rearrangements involving the USH2A gene in patients with Usher syndrome and nonsyndromic retinitis pigmentosa. Methods The multiplex ligation-dependent probe amplification (ML
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8ad79ad91a697f773652713449d2bc3b
https://pubmed.ncbi.nlm.nih.gov/25352746
https://pubmed.ncbi.nlm.nih.gov/25352746