Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

Murali, Chaya

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. [electronic resource] - Molecular genetics and metabolism reports 2014 - 213-219 p. digital

Publication Type: Journal Article

2214-4269

10.1016/j.ymgmr.2014.04.004 doi