A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia). (Record no. 8287524)

MARC details
000 -LEADER
fixed length control field 01488 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513071422.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 199402s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0888-7543
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1006/geno.1993.1481
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 Haubenwallner, S
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 19940222
245 00 - TITLE STATEMENT
Title A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Genomics
Date of publication, distribution, etc. Nov 1993
300 ## - PHYSICAL DESCRIPTION
Extent 392-6 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 Sequence
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 Conserved Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exons
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hyperlipoproteinemia Type I
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Lipoprotein Lipase
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 Molecular Sequence Data
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 Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Restriction Mapping
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hörl, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shachter, N S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Presta, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fried, S K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Höfler, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kostner, G M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Breslow, J L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zechner, R
773 0# - HOST ITEM ENTRY
Title Genomics
Related parts vol. 18
-- no. 2
-- p. 392-6
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1006/geno.1993.1481">https://doi.org/10.1006/geno.1993.1481</a>
Public note Available from publisher's website

No items available.