Heterozygous mutations of OTX2 cause severe ocular malformations. (Record no. 15514131)

MARC details
000 -LEADER
fixed length control field 02406 a2200769 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514224342.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200507s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0002-9297
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1086/430721
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 Ragge, Nicola K
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20050708
245 00 - TITLE STATEMENT
Title Heterozygous mutations of OTX2 cause severe ocular malformations.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Jun 2005
300 ## - PHYSICAL DESCRIPTION
Extent 1008-22 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Motifs
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Anophthalmos
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain
General subdivision diagnostic imaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Mapping
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 Eye Abnormalities
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 Gene Expression Regulation, Developmental
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Homeobox
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Variation
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 Homeodomain Proteins
General subdivision chemistry
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 Magnetic Resonance Imaging
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 Mice
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Models, Genetic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mosaicism
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 Open Reading Frames
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Otx Transcription Factors
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 Penetrance
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Structure, Tertiary
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Radiography
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brown, Alison G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Poloschek, Charlotte M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lorenz, Birgit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Henderson, R Alex
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clarke, Michael P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Russell-Eggitt, Isabelle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fielder, Alistair
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gerrelli, Dianne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martinez-Barbera, Juan Pedro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ruddle, Piers
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hurst, Jane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Collin, J Richard O
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Salt, Alison
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cooper, Simon T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thompson, Pamela J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sisodiya, Sanjay M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Williamson, Kathleen A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fitzpatrick, David R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Heyningen, Veronica
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hanson, Isabel M
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 76
-- no. 6
-- p. 1008-22
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1086/430721">https://doi.org/10.1086/430721</a>
Public note Available from publisher's website

No items available.