Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation. (Record no. 26409815)

MARC details
000 -LEADER
fixed length control field 01567 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517114314.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201801s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1873-2364
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.nmd.2016.08.009
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 Ng, Yi Shiau
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20180125
245 00 - TITLE STATEMENT
Title Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neuromuscular disorders : NMD
Date of publication, distribution, etc. 10 2016
300 ## - PHYSICAL DESCRIPTION
Extent 702-705 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ataxia
General subdivision diagnostic imaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain
General subdivision diagnostic imaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA, Mitochondrial
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Disease Progression
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondrial Diseases
General subdivision diagnostic imaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscle, Skeletal
General subdivision pathology
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 Phenotype
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hardy, Steven A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shrier, Venice
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Quaghebeur, Gerardine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mole, David R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Daniels, Matthew J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Downes, Susan M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Freebody, Jane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fratter, Carl
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hofer, Monika
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nemeth, Andrea H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Poulton, Joanna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Taylor, Robert W
773 0# - HOST ITEM ENTRY
Title Neuromuscular disorders : NMD
Related parts vol. 26
-- no. 10
-- p. 702-705
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.nmd.2016.08.009">https://doi.org/10.1016/j.nmd.2016.08.009</a>
Public note Available from publisher's website

No items available.