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
Cortini, Francesca, Villa, Chiara, Marinelli, Barbara, Franchetti, Sara, Seia, Manuela, Pesatori, Angela Cecilia, Montano, Nicola, Bassotti, AlessandraLanguage:
english
Journal:
Meta Gene
DOI:
10.1016/j.mgene.2018.08.012
Date:
August, 2018
File:
PDF, 2.64 MB
english, 2018