Results 151 to 160 of about 2,650 (160)

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Human Mutation, 2020
Aurelia Defour, Alexandra Salvi, Nicolas Levy   +2 more
exaly  

Characterization of the Goose <i>CAPN3</i> Gene and its Expression Pattern in Muscle Tissues of Sichuan White Geese at Different Growth Stages

Journal of Poultry Science, 2018
Liang Li, Chunchun Han, Hehe Liu
exaly  

Cold Case: Patient with only one CAPN3 variant

2021
Nelson, Isabelle, Cohen, Enzo, Ben Yaou, Rabah, Leturq, France, Nectoux, Juliette, Masson, Cécile, Boland, Anne, Bohm, Johann, Stojkovic, Tanya, Bonne, Gisèle   +9 more
openaire   +1 more source

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients

Neurogenetics, 2007
Albena Todorova, Bilyana Georgieva, Ivailo Tournev   +2 more
exaly  

Entire CAPN3 gene deletion in a patient with limb‐girdle muscular dystrophy type 2A

Muscle and Nerve, 2014
Leire Casas-Fraile, Nicolas Levy, Marc Bartoli   +2 more
exaly  

P.P.6 05 CAPN3 mutations in patients with idiopathic eosinophilic myositis

Neuromuscular Disorders, 2006
M. Krahn, A. Lopez de Munain, N. Streichenberger, R. Bernard, C. Pécheux, H. Testard, J.L. Pena-Segura, N.R. Romero, S. Bouillot-Eimer, X. Ferrer, M. Goicoechea, F. Garcia-Bragado, F. Leturcq, J.A. Urtizberea, N. Lévy   +14 more
openaire   +1 more source

A HincII polymorphicn in the porcine calpain, large polypeptide L3 (CAPN3) gene.

Journal of Animal Science, 1998
N J, Larsen, S, Kenealy, C K, Tuggle, M F, Rothschild   +3 more
openaire   +2 more sources

A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent

Journal of Neuromuscular Diseases
Nurit Assia Batzir, Naama Orenstein, Yuval Yaron   +2 more
exaly  

Mutational screening of the CAPN3 in LGMD patients from Southern Italy.

2008
P Spadafora, M Liguori, P Valentino, R Cittadella, A La Russa, I Manna, I Candiano, V Andreoli, A Quattrone   +8 more
openaire   +2 more sources

OLGU SUNUMU: CAPN3 MUTASYONUNA BAĞLI GÖRÜLEN LGMD2A’xxLI 2 KARDEŞ

2017
GÜNGÖR, MESUT, YARALI, OĞUZHAN
openaire   +1 more source