Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. (Record no. 19384635)

MARC details
000 -LEADER
fixed length control field 01535 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515201007.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201009s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1399-0004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/j.1399-0004.2009.01313.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 Quintana, E
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20100914
245 00 - TITLE STATEMENT
Title Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. May 2010
300 ## - PHYSICAL DESCRIPTION
Extent 474-82 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Blotting, Western
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Case-Control Studies
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 Haplotypes
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Patient Selection
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single Nucleotide
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pyruvate Dehydrogenase (Lipoamide)
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pyruvate Dehydrogenase Complex Deficiency Disease
General subdivision enzymology
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gort, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Busquets, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Navarro-Sastre, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lissens, W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moliner, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lluch, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vilaseca, M A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Meirleir, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ribes, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Briones, P
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 77
-- no. 5
-- p. 474-82
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1399-0004.2009.01313.x">https://doi.org/10.1111/j.1399-0004.2009.01313.x</a>
Public note Available from publisher's website

No items available.