Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease. (Record no. 17503195)

MARC details
000 -LEADER
fixed length control field 01641 a2200505 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515093301.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200802s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0174-304X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1055/s-2007-985902
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 Hartmann, H
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20080214
245 00 - TITLE STATEMENT
Title Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neuropediatrics
Date of publication, distribution, etc. Jun 2007
300 ## - PHYSICAL DESCRIPTION
Extent 143-7 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Age of Onset
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alanine
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alexander Disease
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cysteine
General subdivision genetics
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 Exons
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 Frontal Lobe
General subdivision pathology
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Magnetic Resonance Imaging
General subdivision methods
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 Protein Structure, Tertiary
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Tyrosine
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Valine
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Herchenbach, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stephani, U
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ledaal, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Donnerstag, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lücke, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Das, A M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Christen, H J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hagedorn, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meins, M
773 0# - HOST ITEM ENTRY
Title Neuropediatrics
Related parts vol. 38
-- no. 3
-- p. 143-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1055/s-2007-985902">https://doi.org/10.1055/s-2007-985902</a>
Public note Available from publisher's website

No items available.