Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.

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ID Serval
serval:BIB_A80901E3F052
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
UNIL/CHUV
Titre
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
Périodique
Neuromuscular disorders : NMD
Auteur⸱e⸱s
Beckmann J.S., Richard I., Broux O., Fougerousse F., Allamand V., Chiannilkulchai N., Lim L.E., Duclos F., Bourg N., Brenguier L., Pasturaud P., Quétier F., Roudaut C., Sunada Y., Meyer J., Dinçer P., Lefranc G., Merlini L., Topaloglu H., Tomé F.M., Cohen D., Jackson C.E., Campbell K.P., Fardeau M.
ISSN
0960-8966
Statut éditorial
Publié
Date de publication
1996
Peer-reviewed
Oui
Volume
6
Numéro
6
Pages
455-62
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
The autosomal recessive forms of limb-girdle muscular dystrophies are encoded by at least five distinct genes. The work performed towards the identification of two of these is summarized in this report. This success illustrates the growing importance of genetics in modern nosology.
Mots-clé
Animals, Calpain, Chromosome Mapping, Chromosomes, Human, Pair 15, Cloning, Molecular, Cytoskeletal Proteins, Disease Progression, Dystroglycans, Genes, Recessive, Genetic Heterogeneity, Humans, Membrane Glycoproteins, Mice, Muscles, Muscular Dystrophies, Organ Specificity
OAI-PMH
oai:serval.unil.ch:BIB_A80901E3F052
DOI
10.1016/S0960-8966(96)00386-0
Pubmed
9027855
Web of science
A1996WD96800009
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
20/08/2019 16:12
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