Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. (Record no. 16436019)

MARC details
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fixed length control field 02715 a2200901 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515033612.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200609s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1061-4036
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/ng1842
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 Crow, Yanick J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20060911
245 00 - TITLE STATEMENT
Title Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nature genetics
Date of publication, distribution, etc. Aug 2006
300 ## - PHYSICAL DESCRIPTION
Extent 910-6 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Encephalitis, Viral
General subdivision congenital
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 Heredodegenerative Disorders, Nervous System
General subdivision enzymology
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 Molecular Sequence Data
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 Protein Structure, Quaternary
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Subunits
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ribonuclease H
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Syndrome
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leitch, Andrea
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hayward, Bruce E
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Personal name Garner, Anna
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Personal name Parmar, Rekha
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Personal name Griffith, Elen
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Personal name Ali, Manir
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Personal name Semple, Colin
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Personal name Aicardi, Jean
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Personal name Babul-Hirji, Riyana
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Personal name Baumann, Clarisse
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Personal name Baxter, Peter
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Personal name Bertini, Enrico
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Personal name Chandler, Kate E
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Personal name Chitayat, David
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Personal name Cau, Daniel
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Personal name Déry, Catherine
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Personal name Fazzi, Elisa
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Personal name Goizet, Cyril
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Personal name King, Mary D
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Personal name Klepper, Joerg
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Personal name Lacombe, Didier
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Personal name Lanzi, Giovanni
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Personal name Lyall, Hermione
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Personal name Martínez-Frías, María Luisa
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Personal name Mathieu, Michèle
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Personal name McKeown, Carole
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Personal name Monier, Anne
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Personal name Oade, Yvette
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Personal name Quarrell, Oliver W
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Personal name Rittey, Christopher D
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Personal name Rogers, R Curtis
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Personal name Sanchis, Amparo
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Personal name Stephenson, John B P
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Personal name Tacke, Uta
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Personal name Till, Marianne
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Personal name Tolmie, John L
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Personal name Tomlin, Pam
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Personal name Voit, Thomas
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Personal name Weschke, Bernhard
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Personal name Woods, C Geoffrey
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Personal name Lebon, Pierre
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Personal name Bonthron, David T
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Personal name Ponting, Chris P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jackson, Andrew P
773 0# - HOST ITEM ENTRY
Title Nature genetics
Related parts vol. 38
-- no. 8
-- p. 910-6
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ng1842">https://doi.org/10.1038/ng1842</a>
Public note Available from publisher's website

No items available.