Intellectual disability associated with a homozygous missense mutation in THOC6. (Record no. 22703711)

MARC details
000 -LEADER
fixed length control field 01507 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516145508.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201503s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1750-1172
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1186/1750-1172-8-62
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 Beaulieu, Chandree L
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150330
245 00 - TITLE STATEMENT
Title Intellectual disability associated with a homozygous missense mutation in THOC6.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Orphanet journal of rare diseases
Date of publication, distribution, etc. Apr 2013
300 ## - PHYSICAL DESCRIPTION
Extent 62 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 Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element In Situ Hybridization
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intellectual Disability
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 Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Zebrafish
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Huang, Lijia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Innes, A Micheil
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Akimenko, Marie-Andree
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Puffenberger, Erik G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwartz, Charles
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jerry, Paul
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ober, Carole
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hegele, Robert A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McLeod, D Ross
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwartzentruber, Jeremy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Majewski, Jacek
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bulman, Dennis E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Parboosingh, Jillian S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boycott, Kym M
773 0# - HOST ITEM ENTRY
Title Orphanet journal of rare diseases
Related parts vol. 8
-- p. 62
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1186/1750-1172-8-62">https://doi.org/10.1186/1750-1172-8-62</a>
Public note Available from publisher's website

No items available.