Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways. (Record no. 20809455)

MARC details
000 -LEADER
fixed length control field 01110 a2200277 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516034743.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201107s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1462-3994
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1017/S1462399411001827
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 Elsea, Sarah H
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20110725
245 00 - TITLE STATEMENT
Title Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Expert reviews in molecular medicine
Date of publication, distribution, etc. Apr 2011
300 ## - PHYSICAL DESCRIPTION
Extent e14 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Haploinsufficiency
General subdivision genetics
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 Metabolic Networks and Pathways
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Smith-Magenis Syndrome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Trans-Activators
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 Williams, Stephen R
773 0# - HOST ITEM ENTRY
Title Expert reviews in molecular medicine
Related parts vol. 13
-- p. e14
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1017/S1462399411001827">https://doi.org/10.1017/S1462399411001827</a>
Public note Available from publisher's website

No items available.