Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death. (Record no. 26969933)

MARC details
000 -LEADER
fixed length control field 01634 a2200493 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.2017.22
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 Lahrouchi, Najim
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170912
245 00 - TITLE STATEMENT
Title Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.
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 783-787 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 Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cardiomyopathies
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Carnitine
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Codon, Terminator
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Death, Sudden
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
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 Infant
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 Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Organic Cation Transport Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Solute Carrier Family 22 Member 5
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lodder, Elisabeth M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mansouri, Maria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tadros, Rafik
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zniber, Layla
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Adadi, Najlae
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clur, Sally-Ann B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Spaendonck-Zwarts, Karin Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Postma, Alex V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sefiani, Abdelaziz
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ratbi, Ilham
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bezzina, Connie R
773 0# - HOST ITEM ENTRY
Title European journal of human genetics : EJHG
Related parts vol. 25
-- no. 6
-- p. 783-787
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ejhg.2017.22">https://doi.org/10.1038/ejhg.2017.22</a>
Public note Available from publisher's website

No items available.