Point mutations as a source of de novo genetic disease. (Record no. 22546547)

MARC details
000 -LEADER
fixed length control field 01078 a2200301 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516135858.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201402s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1879-0380
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.gde.2013.01.007
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 de Ligt, Joep
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140213
245 00 - TITLE STATEMENT
Title Point mutations as a source of de novo genetic disease.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Current opinion in genetics & development
Date of publication, distribution, etc. Jun 2013
300 ## - PHYSICAL DESCRIPTION
Extent 257-63 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Review
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Diseases, Inborn
General subdivision etiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genome, Human
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Germ-Line Mutation
General subdivision genetics
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 Humans
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 Point Mutation
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Veltman, Joris A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vissers, Lisenka E L M
773 0# - HOST ITEM ENTRY
Title Current opinion in genetics & development
Related parts vol. 23
-- no. 3
-- p. 257-63
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.gde.2013.01.007">https://doi.org/10.1016/j.gde.2013.01.007</a>
Public note Available from publisher's website

No items available.