Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region. (Record no. 19453480)

MARC details
000 -LEADER
fixed length control field 01623 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515203251.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201005s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1435-232X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/jhg.2009.132
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 Costrop, Laura M F
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20100525
245 00 - TITLE STATEMENT
Title Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of human genetics
Date of publication, distribution, etc. Feb 2010
300 ## - PHYSICAL DESCRIPTION
Extent 112-7 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 Comparative Genomic Hybridization
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 Exons
General subdivision genetics
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 Genetic Predisposition to Disease
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genomic Instability
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 INDEL Mutation
General subdivision genetics
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 Multidrug Resistance-Associated Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nucleic Acid Amplification Techniques
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pseudoxanthoma Elasticum
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element White People
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vanakker, Olivier O M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Van Laer, Lut
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Le Saux, Olivier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martin, Ludovic
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chassaing, Nicolas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guerra, Deanna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pasquali-Ronchetti, Ivonne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Coucke, Paul J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Paepe, Anne
773 0# - HOST ITEM ENTRY
Title Journal of human genetics
Related parts vol. 55
-- no. 2
-- p. 112-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/jhg.2009.132">https://doi.org/10.1038/jhg.2009.132</a>
Public note Available from publisher's website

No items available.