Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. (Record no. 11015510)

MARC details
000 -LEADER
fixed length control field 01578 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513223735.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200012s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1096-7192
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1006/mgme.2000.3082
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 Busquets, C
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20001228
245 00 - TITLE STATEMENT
Title Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics and metabolism
Date of publication, distribution, etc. Nov 2000
300 ## - PHYSICAL DESCRIPTION
Extent 535-7 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 Amino Acid Substitution
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA
General subdivision chemistry
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 Genotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glutarates
General subdivision urine
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glutaryl-CoA Dehydrogenase
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Haplotypes
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 Italy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Metabolism, Inborn Errors
General subdivision enzymology
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 Oxidoreductases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oxidoreductases Acting on CH-CH Group Donors
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single-Stranded Conformational
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Portugal
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Soriano, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Almeida, I T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Garavaglia, B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rimoldi, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rivera, I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Uziel, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cabral, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Coll, M J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ribes, A
773 0# - HOST ITEM ENTRY
Title Molecular genetics and metabolism
Related parts vol. 71
-- no. 3
-- p. 535-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1006/mgme.2000.3082">https://doi.org/10.1006/mgme.2000.3082</a>
Public note Available from publisher's website

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