Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. (Record no. 22508013)

MARC details
000 -LEADER
fixed length control field 02106 a2200685 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516134534.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201304s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1460-2156
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1093/brain/aws344
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 Davidson, Ann E
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20130410
245 00 - TITLE STATEMENT
Title Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Brain : a journal of neurology
Date of publication, distribution, etc. Feb 2013
300 ## - PHYSICAL DESCRIPTION
Extent 508-21 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
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 Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Sequence
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 Child
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 Lysine
General subdivision genetics
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 Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscular Diseases
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Tropomyosin
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Zebrafish
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Siddiqui, Fazeel M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lopez, Michael A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lunt, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carlson, Heather A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moore, Brian E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Love, Seth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Born, Donald E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roper, Helen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Majumdar, Anirban
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jayadev, Suman
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Underhill, Hunter R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smith, Corrine O
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name von der Hagen, Maja
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hubner, Angela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jardine, Philip
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Merrison, Andria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Curtis, Elizabeth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cullup, Thomas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jungbluth, Heinz
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cox, Mary O
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Winder, Thomas L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abdel Salam, Hossam
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li, Jun Z
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moore, Steven A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dowling, James J
773 0# - HOST ITEM ENTRY
Title Brain : a journal of neurology
Related parts vol. 136
-- no. Pt 2
-- p. 508-21
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/brain/aws344">https://doi.org/10.1093/brain/aws344</a>
Public note Available from publisher's website

No items available.