A new mutation in GFAP widens the spectrum of Alexander disease. (Record no. 23949691)

MARC details
000 -LEADER
fixed length control field 01080 a2200277 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516221123.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201508s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1476-5438
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/ejhg.2014.99
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 Brenner, Michael
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150806
245 00 - TITLE STATEMENT
Title A new mutation in GFAP widens the spectrum of Alexander disease.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of human genetics : EJHG
Date of publication, distribution, etc. Jan 2015
300 ## - PHYSICAL DESCRIPTION
Extent 1-2 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Comment
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alexander Disease
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Codon, Nonsense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glial Fibrillary Acidic Protein
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Interaction Domains and Motifs
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Messing, Albee
773 0# - HOST ITEM ENTRY
Title European journal of human genetics : EJHG
Related parts vol. 23
-- no. 1
-- p. 1-2
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ejhg.2014.99">https://doi.org/10.1038/ejhg.2014.99</a>
Public note Available from publisher's website

No items available.