An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. (Record no. 19431932)

MARC details
000 -LEADER
fixed length control field 02763 a2200877 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515202542.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201007s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.21197
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 Steenweg, Marjan E
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20100730
245 00 - TITLE STATEMENT
Title An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Apr 2010
300 ## - PHYSICAL DESCRIPTION
Extent 380-90 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alcohol Oxidoreductases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain Diseases, Metabolic, Inborn
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Disease Models, Animal
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Association Studies
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 Mutation
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jakobs, Cornelis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Errami, Abdellatif
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Dooren, Silvy J M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Adeva Bartolomé, Maria T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aerssens, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Augoustides-Savvapoulou, Persephone
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baric, Ivo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baumann, Matthias
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bonafé, Luisa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chabrol, Brigitte
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clarke, Joe T R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clayton, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Coker, Mahmut
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cooper, Sarah
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Falik-Zaccai, Tzipora
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gorman, Mark
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hahn, Andreas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hasanoglu, Alev
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name King, Mary D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Klerk, Hans B C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Korman, Stanley H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lee, Céline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meldgaard Lund, Allan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mejaski-Bosnjak, Vlatka
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pascual-Castroviejo, Ignacio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Raadhyaksha, Aparna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rootwelt, Terje
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roubertie, Agathe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ruiz-Falco, Maria L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Scalais, Emmanuel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schimmel, Ulf
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Seijo-Martinez, Manuel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Suri, Mohnish
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sykut-Cegielska, Jolanta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Trefz, Friedrich K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Uziel, Graziella
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Valayannopoulos, Vassili
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vianey-Saban, Christine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vlaho, Stefan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vodopiutz, Julia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wajner, Moacir
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Walter, John
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Walter-Derbort, Claudia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yapici, Zuhal
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zafeiriou, Dimitrios I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Spreeuwenberg, Marieke D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Celli, Jacopo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name den Dunnen, Johan T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van der Knaap, Marjo S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Salomons, Gajja S
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 31
-- no. 4
-- p. 380-90
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.21197">https://doi.org/10.1002/humu.21197</a>
Public note Available from publisher's website

No items available.