A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein.

Signorino, Giulia

A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein. [electronic resource] - Human mutation 02 2018 - 266-280 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.23370 doi


Cell Line
Dystroglycans--genetics
Humans
Leukoencephalopathies--genetics
Mutant Proteins--genetics
Walker-Warburg Syndrome--genetics