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1 Ergebnisse
1
Clinical and Molecular Spectrum Associated with COL6A3 c.74..:
Villar-Quiles, Rocío
;
Donkevoort, Sandra
;
de Becdelievre, Alix
...
info:eu-repo/semantics/altIdentifier/doi/10.3233/JND-200577. , 2021
Link:
https://hal.u-pec.fr/hal-03244986
RT Journal T1
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies
UL https://suche.suub.uni-bremen.de/peid=base-ftinserm:oai:HAL:hal-03244986v1&Exemplar=1&LAN=DE A1 Villar-Quiles, Rocío A1 Donkevoort, Sandra A1 de Becdelievre, Alix A1 Gartioux, Corine A1 Jobic, Valérie A1 Foley, A. Reghan A1 Mccarty, Riley A1 Hu, Ying A1 Menassa, Rita A1 Michel, Laurence A1 Gousse, Gaelle A1 Lacour, Arnaud A1 Petiot, Philippe A1 Streichenberger, Nathalie A1 Choumert, Ariane A1 Declerck, Léa A1 Urtizberea, J.A A1 Sole, Guilhem A1 Furby, Alain A1 Cerino, Matthieu A1 Krahn, Martin A1 Campana- Salort, Emmanuelle A1 Ferreiro, Ana A1 Eymard, Bruno A1 Bönnemann, Carsten A1 Bharucha-Goebel, Diana, X A1 Sumner, Charlotte A1 Connolly, Anne M A1 Richard, Pascale A1 Allamand, Valérie A1 Métay, Corinne A1 Stojkovic, Tanya PB HAL CCSD; IOS Press YR 2021 K1 COL6A3 K1 Collagen VI-related myopathies K1 NGS K1 collagen type VI K1 congenital muscular dystrophy (CMD) K1 limb-girdle muscular dystrophy (LGMD) K1 muscular MRI K1 neuromuscular disorders K1 MESH: CONGENITAL MUSCULAR-DYSTROPHY K1 PERIPHERAL-NERVE MYELINATION K1 BETHLEM MYOPATHY K1 MUTATIONS K1 MUSCLE K1 COMMON K1 PHENOTYPE K1 GENES K1 CHAIN K1 [SDV]Life Sciences [q-bio] JF info:eu-repo/semantics/altIdentifier/doi/10.3233/JND-200577 LK http://dx.doi.org/https://hal.u-pec.fr/hal-03244986 DO https://hal.u-pec.fr/hal-03244986 SF ELIB - SuUB Bremen
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