De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. (Record no. 23688025)

MARC details
000 -LEADER
fixed length control field 01595 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516204140.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201405s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2014.03.006
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 Grozeva, Detelina
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140530
245 00 - TITLE STATEMENT
Title De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Apr 2014
300 ## - PHYSICAL DESCRIPTION
Extent 618-24 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 Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 3
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 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 Methyltransferases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carss, Keren
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Spasic-Boskovic, Olivera
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Parker, Michael J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Archer, Hayley
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Firth, Helen V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Park, Soo-Mi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Canham, Natalie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Holder, Susan E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wilson, Meredith
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hackett, Anna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Field, Michael
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Floyd, James A B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hurles, Matthew
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Raymond, F Lucy
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 94
-- no. 4
-- p. 618-24
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2014.03.006">https://doi.org/10.1016/j.ajhg.2014.03.006</a>
Public note Available from publisher's website

No items available.