Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. (Record no. 14945178)

MARC details
000 -LEADER
fixed length control field 01518 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514193355.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200410s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.9264
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 Mozas, Pilar
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20041025
245 00 - TITLE STATEMENT
Title Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Aug 2004
300 ## - PHYSICAL DESCRIPTION
Extent 187 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 Codon, Nonsense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exons
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Frameshift Mutation
General subdivision genetics
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hyperlipoproteinemia Type II
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Introns
General subdivision genetics
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 Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, LDL
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Spain
General subdivision epidemiology
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Castillo, Sergio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tejedor, Diego
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reyes, Gilberto
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Alonso, Rodrigo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Franco, Miguel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Saenz, Pedro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fuentes, Francisco
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Almagro, Fátima
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mata, Pedro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pocoví, Miguel
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 24
-- no. 2
-- p. 187
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.9264">https://doi.org/10.1002/humu.9264</a>
Public note Available from publisher's website

No items available.