A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome. (Record no. 30834367)

MARC details
000 -LEADER
fixed length control field 01589 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518094632.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202110s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1365-2990
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/nan.12617
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 Lee, C Y
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20211025
245 00 - TITLE STATEMENT
Title A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neuropathology and applied neurobiology
Date of publication, distribution, etc. 10 2020
300 ## - PHYSICAL DESCRIPTION
Extent 588-601 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Twin Study
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA-Binding Proteins
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Immunohistochemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscle Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Myasthenic Syndromes, Congenital
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neuromuscular Junction
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transcription Factors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Twins, Monozygotic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome Sequencing
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Petkova, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morales-Gonzalez, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gimber, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schmoranzer, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meisel, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Böhmerle, W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stenzel, W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schuelke, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwarz, J M
773 0# - HOST ITEM ENTRY
Title Neuropathology and applied neurobiology
Related parts vol. 46
-- no. 6
-- p. 588-601
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/nan.12617">https://doi.org/10.1111/nan.12617</a>
Public note Available from publisher's website

No items available.