-
1
المؤلفون: Viola Mönkemöller, Manuela Bozzi, Andrea Brancaccio, Petr V. Konarev, Giulia Signorino, Francesca Sciandra, Sonia Covaceuszach, Wolfgang Hübner, Alberto Cassetta
المصدر: Signorino, G, Covaceuszach, S, Bozzi, M, Hubner, W, Mönkemöller, V, Konarev, P V, Cassetta, A, Brancaccio, A & Sciandra, F 2018, ' A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein ', Human Mutation, vol. 39, no. 2, pp. 266-280 . https://doi.org/10.1002/humu.23370
Human mutation 39 (2018): 266–280. doi:10.1002/humu.23370
info:cnr-pdr/source/autori:Signorino, Giulia (1); Covaceuszach, Sonia (2); Bozzi, Manuela (1,3); Hubner, Wolfgang (4); Monkemoller, Viola (4); Konarev, Petr V (5,6); Cassetta, Alberto (2); Brancaccio, Andrea (3); Sciandra, Francesca (3)/titolo:A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein./doi:10.1002%2Fhumu.23370/rivista:Human mutation/anno:2018/pagina_da:266/pagina_a:280/intervallo_pagine:266–280/volume:39مصطلحات موضوعية: 0301 basic medicine, Mutant, confocal microscopy, medicine.disease_cause, dystroglycan, Cell Line, Dystroglycans, 03 medical and health sciences, Leukoencephalopathies, Mutant protein, dystroglycanopathy, endoplasmic-reticulum retention, Genetics, medicine, Dystroglycan, Humans, Settore BIO/10 - BIOCHIMICA, Genetics (clinical), Mutation, biology, Endoplasmic reticulum, multicystic leukodystrophy, Walker-Warburg Syndrome, ER retention, SAXS, Molecular biology, site-directed mutagenesis, super resolution microscopy, 030104 developmental biology, Ectodomain, biology.protein, Mutant Proteins
وصف الملف: application/pdf
-
2
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:39مصطلحات 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 -
3دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.
