Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report. (Record no. 30696022)

MARC details
000 -LEADER
fixed length control field 01172 a2200385 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518090454.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202007s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1471-2377
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1186/s12883-020-01660-0
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 He, Ruojie
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200723
245 00 - TITLE STATEMENT
Title Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. BMC neurology
Date of publication, distribution, etc. Mar 2020
300 ## - PHYSICAL DESCRIPTION
Extent 72 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Asian People
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain
General subdivision pathology
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 Homozygote
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor, Notch3
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li, Huan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sun, Yiming
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Menglong
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Liang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhu, Yuling
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Cheng
773 0# - HOST ITEM ENTRY
Title BMC neurology
Related parts vol. 20
-- no. 1
-- p. 72
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1186/s12883-020-01660-0">https://doi.org/10.1186/s12883-020-01660-0</a>
Public note Available from publisher's website

No items available.