OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. (Record no. 15039738)

MARC details
000 -LEADER
fixed length control field 02028 a2200685 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514200614.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200505s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1468-6244
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1136/jmg.2003.016576
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 Reynier, P
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20050505
245 00 - TITLE STATEMENT
Title OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. Sep 2004
300 ## - PHYSICAL DESCRIPTION
Extent e110 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Letter; 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 Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aged, 80 and over
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 Apoptosis
General subdivision drug effects
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cataract
General subdivision complications
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 DNA Mutational Analysis
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 Fibroblasts
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element France
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Dominant
General subdivision genetics
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 Lod Score
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
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 Mitochondria
General subdivision metabolism
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 Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Optic Atrophy, Autosomal Dominant
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Proteins
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Staurosporine
General subdivision pharmacology
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Amati-Bonneau, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Verny, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Olichon, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Simard, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guichet, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bonnemains, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Malecaze, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Malinge, M C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pelletier, J B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Calvas, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dollfus, H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Belenguer, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Malthièry, Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lenaers, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bonneau, D
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 41
-- no. 9
-- p. e110
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmg.2003.016576">https://doi.org/10.1136/jmg.2003.016576</a>
Public note Available from publisher's website

No items available.