Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome. (Record no. 16574762)

MARC details
000 -LEADER
fixed length control field 01565 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515042157.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200712s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1096-7192
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ymgme.2006.08.003
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 Ugalde, Cristina
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20071206
245 00 - TITLE STATEMENT
Title Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics and metabolism
Date of publication, distribution, etc. Jan 2007
300 ## - PHYSICAL DESCRIPTION
Extent 10-4 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 Amino Acid Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Substitution
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cells, Cultured
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 Electron Transport Complex I
General subdivision deficiency
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 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 Mitochondrial Proteins
General subdivision genetics
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
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element NADH Dehydrogenase
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hinttala, Reetta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Timal, Sharita
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smeets, Roel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rodenburg, Richard J T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Uusimaa, Johanna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Heuvel, Lambert P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nijtmans, Leo G J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Majamaa, Kari
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smeitink, Jan A M
773 0# - HOST ITEM ENTRY
Title Molecular genetics and metabolism
Related parts vol. 90
-- no. 1
-- p. 10-4
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ymgme.2006.08.003">https://doi.org/10.1016/j.ymgme.2006.08.003</a>
Public note Available from publisher's website

No items available.