A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease. (Record no. 11661807)

MARC details
000 -LEADER
fixed length control field 01101 a2200313 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514020744.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200203s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1096-7192
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1006/mgme.2001.3252
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 Deschauer, M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20020313
245 00 - TITLE STATEMENT
Title A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics and metabolism
Date of publication, distribution, etc. Dec 2001
300 ## - PHYSICAL DESCRIPTION
Extent 489-91 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 Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Codon, Nonsense
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 Genetic Heterogeneity
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glycogen Phosphorylase, Muscle Form
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glycogen Storage Disease Type V
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Opalka, J R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lindner, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zierz, S
773 0# - HOST ITEM ENTRY
Title Molecular genetics and metabolism
Related parts vol. 74
-- no. 4
-- p. 489-91
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1006/mgme.2001.3252">https://doi.org/10.1006/mgme.2001.3252</a>
Public note Available from publisher's website

No items available.