The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome. (Record no. 21573554)

MARC details
000 -LEADER
fixed length control field 01485 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516081131.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201207s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1469-8749
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/j.1469-8749.2012.04224.x
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 Nesbitt, Victoria
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120709
245 00 - TITLE STATEMENT
Title The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Developmental medicine and child neurology
Date of publication, distribution, etc. Jun 2012
300 ## - PHYSICAL DESCRIPTION
Extent 500-6 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Review
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 Brain
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electron Transport Complex I
General subdivision deficiency
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Leigh Disease
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Magnetic Resonance Imaging
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 Point Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Proline
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Serine
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morrison, Patrick J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Crushell, Ellen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Donnelly, Deirdre E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Alston, Charlotte L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name He, Langping
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McFarland, Robert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Taylor, Robert W
773 0# - HOST ITEM ENTRY
Title Developmental medicine and child neurology
Related parts vol. 54
-- no. 6
-- p. 500-6
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1469-8749.2012.04224.x">https://doi.org/10.1111/j.1469-8749.2012.04224.x</a>
Public note Available from publisher's website

No items available.