Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. (Record no. 17568954)

MARC details
000 -LEADER
fixed length control field 02143 a2200649 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515095511.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200804s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1096-7206
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ymgme.2007.09.021
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 Tein, Ingrid
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20080403
245 00 - TITLE STATEMENT
Title Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics and metabolism
Date of publication, distribution, etc. Feb 2008
300 ## - PHYSICAL DESCRIPTION
Extent 179-89 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Abnormalities, Multiple
General subdivision enzymology
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 Alleles
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Animals
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 Butyryl-CoA Dehydrogenase
General subdivision deficiency
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
General subdivision genetics
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 Founder Effect
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homozygote
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 Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Jews
General subdivision genetics
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 Metabolism, Inborn Errors
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mice
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscular Diseases
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Point Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Recombinant Proteins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elpeleg, Orly
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ben-Zeev, Bruria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Korman, Stanley H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lossos, Alexander
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lev, Dorit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lerman-Sagie, Tally
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leshinsky-Silver, Esther
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vockley, Jerry
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Berry, Gerard T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lamhonwah, Anne-Marie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Matern, Dietrich
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roe, Charles R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gregersen, Niels
773 0# - HOST ITEM ENTRY
Title Molecular genetics and metabolism
Related parts vol. 93
-- no. 2
-- p. 179-89
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ymgme.2007.09.021">https://doi.org/10.1016/j.ymgme.2007.09.021</a>
Public note Available from publisher's website

No items available.