Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. (Record no. 22588599)

MARC details
000 -LEADER
fixed length control field 01565 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516141337.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201407s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1872-8278
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.mito.2013.03.002
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 Neeve, Vivienne C M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140715
245 00 - TITLE STATEMENT
Title Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Mitochondrion
Date of publication, distribution, etc. Nov 2013
300 ## - PHYSICAL DESCRIPTION
Extent 743-8 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 Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Blotting, Northern
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 Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Primers
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electron Transport
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electrophoresis, Polyacrylamide Gel
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 Genes, Recessive
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 Muscle, Skeletal
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Siblings
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pyle, Angela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boczonadi, Veronika
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gomez-Duran, Aurora
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Griffin, Helen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santibanez-Koref, Mauro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gaiser, Ulrike
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bauer, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tzschach, Andreas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chinnery, Patrick F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Horvath, Rita
773 0# - HOST ITEM ENTRY
Title Mitochondrion
Related parts vol. 13
-- no. 6
-- p. 743-8
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.mito.2013.03.002">https://doi.org/10.1016/j.mito.2013.03.002</a>
Public note Available from publisher's website

No items available.