Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. (Record no. 21297706)

MARC details
000 -LEADER
fixed length control field 01951 a2200589 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516063403.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201207s 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/ddr509
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 Khan, Kamron
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120709
245 00 - TITLE STATEMENT
Title Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human molecular genetics
Date of publication, distribution, etc. Feb 2012
300 ## - PHYSICAL DESCRIPTION
Extent 776-83 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 Basic Helix-Loop-Helix Transcription Factors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Consanguinity
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Eye
General subdivision embryology
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 Eye Diseases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Eye Proteins
General subdivision metabolism
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 Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nerve Tissue Proteins
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retina
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element beta Catenin
General subdivision metabolism
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Logan, Clare V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McKibbin, Martin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sheridan, Eamonn
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elçioglu, Nursel H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yenice, Ozlem
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Parry, David A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fernandez-Fuentes, Narcis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abdelhamed, Zakia I A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Al-Maskari, Ahmed
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Poulter, James A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mohamed, Moin D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carr, Ian M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morgan, Joanne E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jafri, Hussain
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Raashid, Yasmin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Taylor, Graham R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Johnson, Colin A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Inglehearn, Chris F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Toomes, Carmel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ali, Manir
773 0# - HOST ITEM ENTRY
Title Human molecular genetics
Related parts vol. 21
-- no. 4
-- p. 776-83
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/hmg/ddr509">https://doi.org/10.1093/hmg/ddr509</a>
Public note Available from publisher's website

No items available.