Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain. (Record no. 17778725)

MARC details
000 -LEADER
fixed length control field 01518 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515110549.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200804s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.9527
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 Fouillade, Charles
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20080402
245 00 - TITLE STATEMENT
Title Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Mar 2008
300 ## - PHYSICAL DESCRIPTION
Extent 452 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Substitution
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 CADASIL
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Dimerization
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 Heterozygote
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 Mice
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element NIH 3T3 Cells
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Structure, Quaternary
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor, Notch3
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Notch
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Recombinant Proteins
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transfection
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chabriat, Hugues
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Riant, Florence
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mine, Manuèle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Arnoud, Minh
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Magy, Laurent
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bousser, Marie Germaine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tournier-Lasserve, Elisabeth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Joutel, Anne
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 29
-- no. 3
-- p. 452
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.9527">https://doi.org/10.1002/humu.9527</a>
Public note Available from publisher's website

No items available.