Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families. (Record no. 26611931)

MARC details
000 -LEADER
fixed length control field 01593 a2200493 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517124430.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201705s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1471-2350
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1186/s12881-016-0347-6
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 Hanley, Alan
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170502
245 00 - TITLE STATEMENT
Title Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. BMC medical genetics
Date of publication, distribution, etc. Nov 2016
300 ## - PHYSICAL DESCRIPTION
Extent 83 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acids
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cardiomyopathy, Dilated
General subdivision diagnostic imaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Death, Sudden, Cardiac
General subdivision etiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electrocardiography
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 Genotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element High-Throughput Nucleotide Sequencing
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homeobox Protein Nkx-2.5
General subdivision genetics
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 Male
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single Nucleotide
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Walsh, Katie A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Joyce, Caroline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McLellan, Michael A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clauss, Sebastian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hagen, Amaya
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shea, Marisa A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tucker, Nathan R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lin, Honghuang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fahy, Gerard J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ellinor, Patrick T
773 0# - HOST ITEM ENTRY
Title BMC medical genetics
Related parts vol. 17
-- no. 1
-- p. 83
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1186/s12881-016-0347-6">https://doi.org/10.1186/s12881-016-0347-6</a>
Public note Available from publisher's website

No items available.