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New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with jeune asphyxiating thoracic dystrophy
Cossu, Carla, Incani, Federica, Serra, Maria Luisa, Coiana, Alessandra, Crisponi, Giangiorgio, Boccone, Loredana, Rosatelli, Maria CristinaLanguage:
english
Journal:
Clinica Chimica Acta
DOI:
10.1016/j.cca.2016.02.006
Date:
February, 2016
File:
PDF, 757 KB
english, 2016