A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. (Record no. 17474263)

MARC details
000 -LEADER
fixed length control field 01828 a2200541 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515092304.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200804s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1468-6244
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1136/jmg.2007.052084
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 Jonckheere, A I
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20080403
245 00 - TITLE STATEMENT
Title A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. Mar 2008
300 ## - PHYSICAL DESCRIPTION
Extent 129-33 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 Adolescent
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 Cardiomyopathy, Hypertrophic
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Codon, Nonsense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Primers
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Mitochondrial
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 Hybrid Cells
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 Mitochondrial Diseases
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondrial Proton-Translocating ATPases
General subdivision chemistry
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 Nervous System Diseases
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Homology, Amino Acid
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hogeveen, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nijtmans, L G J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van den Brand, M A M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Janssen, A J M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Diepstra, J H S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van den Brandt, F C A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van den Heuvel, L P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hol, F A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hofste, T G J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kapusta, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dillmann, U
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shamdeen, M G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smeitink, J A M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rodenburg, R J T
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 45
-- no. 3
-- p. 129-33
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmg.2007.052084">https://doi.org/10.1136/jmg.2007.052084</a>
Public note Available from publisher's website

No items available.