A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. (Record no. 12327904)

MARC details
000 -LEADER
fixed length control field 02101 a2200637 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514054809.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200302s 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.40.1.11
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 Longo, I
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20030221
245 00 - TITLE STATEMENT
Title A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. Jan 2003
300 ## - PHYSICAL DESCRIPTION
Extent 11-7 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 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 Amino Acid Substitution
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Extracts
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Line
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 Chromosomes, Human, X
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Coenzyme A Ligases
General subdivision blood
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 Genetic Carrier Screening
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Testing
General subdivision methods
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 Leucine
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Lymphocytes
General subdivision chemistry
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 X-Linked Intellectual Disability
General subdivision blood
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 Molecular Diagnostic Techniques
General subdivision methods
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 Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Proline
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Repressor Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Saccharomyces cerevisiae Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sex Chromosome Aberrations
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Long-Chain-Fatty-Acid-CoA Ligase
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Frints, S G M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fryns, J-P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meloni, I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pescucci, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ariani, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Borghgraef, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Raynaud, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marynen, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwartz, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Renieri, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Froyen, G
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 40
-- no. 1
-- p. 11-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmg.40.1.11">https://doi.org/10.1136/jmg.40.1.11</a>
Public note Available from publisher's website

No items available.