A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β
Hashemi-Gorji, Feyzollah, Ghafouri-Fard, Soudeh, Salehpour, Shadab, Yassaee, Vahid Reza, Miryounesi, MohammadLanguage:
english
Journal:
Journal of Pediatric Endocrinology and Metabolism
DOI:
10.1515/jpem-2016-0032
Date:
January, 2016
File:
PDF, 511 KB
english, 2016