Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation. (Record no. 11821578)

MARC details
000 -LEADER
fixed length control field 01427 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514030016.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200209s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0141-8955
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1023/a:1013908728445
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 Vilarinho, L
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20020918
245 00 - TITLE STATEMENT
Title Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of inherited metabolic disease
Date of publication, distribution, etc. Dec 2001
300 ## - PHYSICAL DESCRIPTION
Extent 883-4 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adenosine Triphosphatases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adenosine Triphosphate
General subdivision biosynthesis
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 DNA, Mitochondrial
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Energy Metabolism
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 Leigh Disease
General subdivision enzymology
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 Membrane Potentials
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Point Mutation
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barbot, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carrozzo, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Calado, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tessa, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dionisi-Vici, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guimarães, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santorelli, F M
773 0# - HOST ITEM ENTRY
Title Journal of inherited metabolic disease
Related parts vol. 24
-- no. 8
-- p. 883-4
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1023/a:1013908728445">https://doi.org/10.1023/a:1013908728445</a>
Public note Available from publisher's website

No items available.