Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. (Record no. 22993261)

MARC details
000 -LEADER
fixed length control field 03392 a2201165 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516163750.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201311s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1546-1718
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/ng.2728
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Lemke, Johannes R
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20131126
245 00 - TITLE STATEMENT
Title Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nature genetics
Date of publication, distribution, etc. Sep 2013
300 ## - PHYSICAL DESCRIPTION
Extent 1067-72 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Substitution
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsies, Partial
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Models, Molecular
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Conformation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, N-Methyl-D-Aspartate
General subdivision chemistry
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lal, Dennis
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Personal name Reinthaler, Eva M
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Personal name Steiner, Isabelle
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Personal name Nothnagel, Michael
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Personal name Alber, Michael
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Personal name Schwake, Michael
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Personal name Finsterwalder, Katrin
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Personal name Franke, Andre
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Personal name Jähn, Johanna A
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Personal name Muhle, Hiltrud
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Personal name Weckhuysen, Sarah
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Personal name De Jonghe, Peter
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Personal name Kutzer, Christina
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Personal name Sperner, Jürgen
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Personal name Becker, Felicitas
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Personal name Ronen, Gabriel M
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Personal name Geldner, Julia
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Personal name Harvey, Robert J
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Personal name Herms, Stefan
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Personal name Altmüller, Janine
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Personal name Toliat, Mohammad R
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Personal name Thiele, Holger
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Personal name Nürnberg, Peter
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Personal name Wilhelm, Christian
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Personal name Stephani, Ulrich
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Personal name Helbig, Ingo
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Personal name Lerche, Holger
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Personal name Zimprich, Fritz
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Personal name Neubauer, Bernd A
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Personal name Biskup, Saskia
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Personal name von Spiczak, Sarah
773 0# - HOST ITEM ENTRY
Title Nature genetics
Related parts vol. 45
-- no. 9
-- p. 1067-72
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ng.2728">https://doi.org/10.1038/ng.2728</a>
Public note Available from publisher's website

No items available.