[Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier]. (Record no. 21003235)

MARC details
000 -LEADER
fixed length control field 01530 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516045215.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201203s 0 0 spa d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1579-2242
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.recesp.2011.02.016
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 Murga-Eizagaechevarria, Nekane
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120320
245 00 - TITLE STATEMENT
Title [Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier].
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Revista espanola de cardiologia
Date of publication, distribution, etc. Dec 2011
300 ## - PHYSICAL DESCRIPTION
Extent 1225-6 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Letter
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Abnormalities, Multiple
General subdivision genetics
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 DNA
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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heart Defects, Congenital
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heart Septal Defects, Atrial
General subdivision genetics
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Lower Extremity Deformities, Congenital
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 Penetrance
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 Polymerase Chain Reaction
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element T-Box Domain Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Thumb
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Upper Extremity Deformities, Congenital
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Garcia-Barcina, Maria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sarasola Diez, Esther
773 0# - HOST ITEM ENTRY
Title Revista espanola de cardiologia
Related parts vol. 64
-- no. 12
-- p. 1225-6
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.recesp.2011.02.016">https://doi.org/10.1016/j.recesp.2011.02.016</a>
Public note Available from publisher's website

No items available.