Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
DBDaniel Beltrán-Valero de BernabéSCSophie CurrierASAlice SteinbrecherJCJacopo CelliEVEllen van Beusekom
Radboud University Nijmegen · Radboud University Medical Center · +10 more institutions
Indexed incrossrefpubmed
Abstract
No abstract available for this paper.
Citation impact
687
total citations
- FWCI
- 18.17
- Percentile
- 100%
- References
- 48
Citations per year
Authors
17- DBDaniel Beltrán-Valero de Bernabé
Radboud University Nijmegen, Radboud University Medical Center
- SCSophie Currier
Hadassah Medical Center
- ASAlice Steinbrecher
Essen University Hospital, Freie Universität Berlin
- JCJacopo Celli
Radboud University Nijmegen, Radboud University Medical Center
- EVEllen van Beusekom
Radboud University Nijmegen, Radboud University Medical Center
Topics & keywords
Topics
Keywords
- Congenital muscular dystrophy
- Genetics
- Biology
- Disease gene identification
- Missense mutation
- Nonsense mutation
- Gene
- Muscular dystrophy
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