X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. (Record no. 23208434)

MARC details
000 -LEADER
fixed length control field 02129 a2200649 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516175458.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201406s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1096-8652
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/ajh.23616
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 Campagna, Dean R
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140604
245 00 - TITLE STATEMENT
Title X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of hematology
Date of publication, distribution, etc. Mar 2014
300 ## - PHYSICAL DESCRIPTION
Extent 315-9 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element 5-Aminolevulinate Synthetase
General subdivision genetics
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 Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Anemia, Sideroblastic
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Binding Sites
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Enhancer Elements, Genetic
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Europe
General subdivision ethnology
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 GATA Transcription Factors
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Diseases, X-Linked
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genotype
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 Introns
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 Middle Aged
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 Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Bie, Charlotte I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schmitz-Abe, Klaus
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sweeney, Marion
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sendamarai, Anoop K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schmidt, Paul J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heeney, Matthew M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yntema, Helger G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kannengiesser, Caroline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grandchamp, Bernard
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Niemeyer, Charlotte M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Knoers, Nine V A M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Swart, Sonia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marron, Gordon
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Wijk, Richard
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Raymakers, Reinier A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name May, Alison
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Markianos, Kyriacos
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bottomley, Sylvia S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Swinkels, Dorine W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fleming, Mark D
773 0# - HOST ITEM ENTRY
Title American journal of hematology
Related parts vol. 89
-- no. 3
-- p. 315-9
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/ajh.23616">https://doi.org/10.1002/ajh.23616</a>
Public note Available from publisher's website

No items available.