VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. (Record no. 23824776)

MARC details
000 -LEADER
fixed length control field 02176 a2200685 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516212851.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201503s 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.22590
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 Diodato, Daria
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150330
245 00 - TITLE STATEMENT
Title VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Aug 2014
300 ## - PHYSICAL DESCRIPTION
Extent 983-9 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Line
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA, Mitochondrial
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electron Transport Complex I
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fibroblasts
General subdivision cytology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element HLA Antigens
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homozygote
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Isoenzymes
General subdivision genetics
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 Mitochondria
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondrial Encephalomyopathies
General subdivision enzymology
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 Polymorphism, Genetic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA, Messenger
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA, Transfer, Thr
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA, Transfer, Val
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Saccharomyces cerevisiae
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Threonine-tRNA Ligase
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Valine-tRNA Ligase
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Melchionda, Laura
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Haack, Tobias B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dallabona, Cristina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baruffini, Enrico
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Donnini, Claudia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Granata, Tiziana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ragona, Francesca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Balestri, Paolo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Margollicci, Maria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lamantea, Eleonora
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nasca, Alessia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Powell, Christopher A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Minczuk, Michal
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Strom, Tim M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meitinger, Thomas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Prokisch, Holger
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lamperti, Costanza
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zeviani, Massimo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ghezzi, Daniele
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 35
-- no. 8
-- p. 983-9
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.22590">https://doi.org/10.1002/humu.22590</a>
Public note Available from publisher's website

No items available.