Results 151 to 159 of about 2,671 (159)

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark

European Journal of Human Genetics, 2008
John Vissing, Morten Dunø, Vissing John   +2 more
exaly  

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

Human Mutation, 2020
Nicolas Levy, Svetlana Gorokhova, Aurelia Defour   +2 more
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
Ivo Kremensky Or Kremenski, Ivailo Tournev, Jürgen Horst   +2 more
exaly  

A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency

Journal of Clinical Neuroscience, 2018
Teerin Liewluck, Steven Moore
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

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