A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein.
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A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein.
description
2017 nî lūn-bûn
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name
A dystroglycan mutation (p.Cys ...... tention of the mutant protein.
@en
A dystroglycan mutation
@nl
type
label
A dystroglycan mutation (p.Cys ...... tention of the mutant protein.
@en
A dystroglycan mutation
@nl
prefLabel
A dystroglycan mutation (p.Cys ...... tention of the mutant protein.
@en
A dystroglycan mutation
@nl
P2093
P2860
P50
P356
P1433
P1476
A dystroglycan mutation (p.Cys ...... tention of the mutant protein.
@en
P2093
Giulia Signorino
Manuela Bozzi
Petr V Konarev
Viola Mönkemöller
Wolfgang Hübner
P2860
P304
P356
10.1002/HUMU.23370
P577
2017-11-13T00:00:00Z