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Schema
>
LiteratureReference
>
Entries
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
Show undefined attributes
author
[Person:517442] Beltrán-Valero de Bernabé, D
[Person:5615580] Currier, S
[Person:5615610] Steinbrecher, A
[Person:5615628] Celli, J
[Person:5615564] van Beusekom, E
[Person:5615568] van der Zwaag, B
[Person:2485027] Kayserili, H
[Person:5615626] Merlini, L
[Person:2453884] Chitayat, D
[Person:4420023] Dobyns, WB
[Person:5615646] Cormand, B
[Person:5615617] Lehesjoki, AE
[Person:5615538] Cruces, J
[Person:200235] Voit, T
[Person:5615581] Walsh, CA
[Person:3247981] van Bokhoven, H
[Person:3247887] Brunner, HG
created
[InstanceEdit:5615549] Jassal, Bijay, 2014-07-25
dbId
5615607
displayName
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
journal
Am. J. Hum. Genet.
pages
1033-43
pubMedIdentifier
12369018
schemaClass
LiteratureReference
title
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
url
http://www.ncbi.nlm.nih.gov/pubmed/12369018
volume
71
year
2002
Referrals
(literatureReference)
[FailedReaction:R-HSA-5615604] Defective POMT1 does not transfer Man from Dol-P-Man to DAG1
[Reaction:R-HSA-5615637] POMT1:POMT2 transfers Man from Dol-P-Man to DAG1(30-653)
(author)
[Person:5615626] Merlini, L
[Person:3247887] Brunner, HG
[Person:3247981] van Bokhoven, H
[Person:2453884] Chitayat, D
[Person:5615564] van Beusekom, E
[Person:5615628] Celli, J
[Person:5615617] Lehesjoki, AE
[Person:4420023] Dobyns, WB
[Person:5615610] Steinbrecher, A
[Person:5615646] Cormand, B
[Person:5615580] Currier, S
[Person:5615581] Walsh, CA
[Person:200235] Voit, T
[Person:5615538] Cruces, J
[Person:2485027] Kayserili, H
[Person:5615568] van der Zwaag, B
[Person:517442] Beltrán-Valero de Bernabé, D
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