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1 Ergebnisse
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Ehlers-Danlos Syndrome classical type: A novel COL5A2 misse..:
Cortini, Francesca
;
Villa, Chiara
;
Marinelli, Barbara
...
Meta Gene. 18 (2018) - p. 132-136 , 2018
Link:
https://doi.org/10.1016/j.mgene.2018.08.012
RT Journal T1
Ehlers-Danlos Syndrome classical type: A novel COL5A2 missense mutation with possible additive effect of a COL5A1 stop-gain mutation in a strongly correlated phenotype
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.mgene.2018.08.012&Exemplar=1&LAN=DE A1 Cortini, Francesca A1 Villa, Chiara A1 Marinelli, Barbara A1 Franchetti, Sara A1 Seia, Manuela A1 Pesatori, Angela Cecilia A1 Montano, Nicola A1 Bassotti, Alessandra PB Elsevier BV YR 2018 SN 2214-5400 JF Meta Gene VO 18 SP 132 OP 136 LK http://dx.doi.org/https://doi.org/10.1016/j.mgene.2018.08.012 DO https://doi.org/10.1016/j.mgene.2018.08.012 SF ELIB - SuUB Bremen
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