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1 Ergebnisse
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Homozygous truncating mutation in prenatally expressed skel..:
Fernández-Marmiesse, Ana
;
Carrascosa-Romero, M. Carmen
;
Alfaro Ponce, Blanca
...
Neuromuscular Disorders. 27 (2017) 2 - p. 188-192 , 2017
Link:
https://doi.org/10.1016/j.nmd.2016.11.002
RT Journal T1
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.nmd.2016.11.002&Exemplar=1&LAN=DE A1 Fernández-Marmiesse, Ana A1 Carrascosa-Romero, M. Carmen A1 Alfaro Ponce, Blanca A1 Nascimento, Andres A1 Ortez, Carlos A1 Romero, Norma A1 Palacios, Lourdes A1 Jimenez-Mallebrera, Cecilia A1 Jou, Cristina A1 Gouveia, Sofía A1 Couce, María L. PB Elsevier BV YR 2017 SN 0960-8966 JF Neuromuscular Disorders VO 27 IS 2 SP 188 OP 192 LK http://dx.doi.org/https://doi.org/10.1016/j.nmd.2016.11.002 DO https://doi.org/10.1016/j.nmd.2016.11.002 SF ELIB - SuUB Bremen
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