Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A). (Record no. 28054482)

MARC details
000 -LEADER
fixed length control field 01564 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517200802.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201907s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1573-2592
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s10875-018-0475-1
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 Wolach, Baruch
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20190726
245 00 - TITLE STATEMENT
Title Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of clinical immunology
Date of publication, distribution, etc. 02 2018
300 ## - PHYSICAL DESCRIPTION
Extent 193-203 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Age of Onset
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Biological Variation, Population
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Biomarkers
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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Granulomatous Disease, Chronic
General subdivision diagnosis
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 Israel
General subdivision epidemiology
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 Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element NADPH Oxidases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gavrieli, Ronit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Boer, Martin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Leeuwen, Karin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wolach, Ofir
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grisaru-Soen, Galia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Broides, Arnon
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Etzioni, Amos
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Somech, Raz
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roos, Dirk
773 0# - HOST ITEM ENTRY
Title Journal of clinical immunology
Related parts vol. 38
-- no. 2
-- p. 193-203
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s10875-018-0475-1">https://doi.org/10.1007/s10875-018-0475-1</a>
Public note Available from publisher's website

No items available.