Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. (Record no. 23886407)

MARC details
000 -LEADER
fixed length control field 01640 a2200493 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516215012.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201506s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1460-2083
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1093/hmg/ddu253
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 Lechner, Judith
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150603
245 00 - TITLE STATEMENT
Title Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human molecular genetics
Date of publication, distribution, etc. Oct 2014
300 ## - PHYSICAL DESCRIPTION
Extent 5527-35 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 DNA-Binding Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ehlers-Danlos Syndrome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Eye Abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Association Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homozygote
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 Joint Instability
General subdivision congenital
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Keratoconus
General subdivision genetics
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 Polymorphism, Single Nucleotide
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Skin Abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transcription Factors
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Porter, Louise F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rice, Aine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vitart, Veronique
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Armstrong, David J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schorderet, Daniel F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Munier, Francis L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wright, Alan F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Inglehearn, Chris F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Black, Graeme C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Simpson, David A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Manson, Forbes
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Willoughby, Colin E
773 0# - HOST ITEM ENTRY
Title Human molecular genetics
Related parts vol. 23
-- no. 20
-- p. 5527-35
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/hmg/ddu253">https://doi.org/10.1093/hmg/ddu253</a>
Public note Available from publisher's website

No items available.