المؤلفون: Signorino G (1), Covaceuszach S (2), Bozzi M (1), (3), Hübner W (4), Mönkemöller V (4), Konarev PV (5), Cassetta A (2), Brancaccio A (3), (6), Sciandra F (3).

المصدر: Human mutation 39 (2018): 266–280.
info:cnr-pdr/source/autori:Signorino G (1), Covaceuszach S (2), Bozzi M (1),(3), Hübner W (4), Mönkemöller V (4), Konarev PV (5), Cassetta A (2), Brancaccio A (3),(6), Sciandra F (3)./titolo:A dystroglycan mutation (p.Cys66uPhe) associated to muscle-eye-brain disease with multicystic leukodystrophy results in ER-retention of the mutant protein/doi:/rivista:Human mutation/anno:2018/pagina_da:266/pagina_a:280/intervallo_pagine:266–280/volume:39

مصطلحات موضوعية: SAXS, confocal microscopy, dystroglycan, dystroglycanopathy, endoplasmic-reticulum retention, multicystic leukodystrophy, site-directed mutagenesis, super resolution microscopy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::adbed9846b9650783ff2d45322dc2d02
http://www.cnr.it/prodotto/i/390142