A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. (Record no. 26969929)

MARC details
000 -LEADER
fixed length control field 01481 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517143316.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201709s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1476-5438
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/ejhg.2017.20
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 Nazli, Aisha
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170912
245 00 - TITLE STATEMENT
Title A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of human genetics : EJHG
Date of publication, distribution, etc. 06 2017
300 ## - PHYSICAL DESCRIPTION
Extent 744-751 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 Respiration
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cells, Cultured
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
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 Fibroblasts
General subdivision metabolism
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 Membrane Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondrial Encephalomyopathies
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondrial Membranes
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondrial Proteins
General subdivision genetics
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 Oxygen
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splicing
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Safdar, Adeel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Saleem, Ayesha
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Akhtar, Mahmood
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brady, Lauren I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwartzentruber, Jeremy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tarnopolsky, Mark A
773 0# - HOST ITEM ENTRY
Title European journal of human genetics : EJHG
Related parts vol. 25
-- no. 6
-- p. 744-751
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ejhg.2017.20">https://doi.org/10.1038/ejhg.2017.20</a>
Public note Available from publisher's website

No items available.