Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

Details

Language :

English

ISBNs :

9783642334320

Database :

Complementary Index

Journal :

JIMD Reports - Case & Research Reports, 2012/5

Publication Type :

Book

Accession number :

93841848

Full Text :

https://doi.org/10.1007/8904_2012_172