A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency. (Record no. 28621115)

MARC details
000 -LEADER
fixed length control field 02773 a2200853 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517225541.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201910s 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/s10875-018-0527-6
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 Rosain, Jérémie
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20191015
245 00 - TITLE STATEMENT
Title A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of clinical immunology
Date of publication, distribution, etc. 07 2018
300 ## - PHYSICAL DESCRIPTION
Extent 617-627 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alleles
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alu Elements
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 Chromosome Mapping
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Copy Number Variations
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 Gene Expression
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Association Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
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 Interferon-gamma
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Interleukin-12 Receptor beta 1 Subunit
General subdivision deficiency
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 Mycobacterium Infections
General subdivision diagnosis
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 Phenotype
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Oleaga-Quintas, Carmen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Deswarte, Caroline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Verdin, Hannah
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marot, Stéphane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Syridou, Garyfallia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mansouri, Mahboubeh
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mahdaviani, S Alireza
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Venegas-Montoya, Edna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tsolia, Maria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mesdaghi, Mehrnaz
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chernyshova, Liudmyla
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stepanovskiy, Yuriy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Parvaneh, Nima
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mansouri, Davood
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pedraza-Sánchez, Sigifredo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bondarenko, Anastasia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Espinosa-Padilla, Sara E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yamazaki-Nakashimada, Marco A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nieto-Patlán, Alejandro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kerner, Gaspard
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lambert, Nathalie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jacques, Corinne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Corvilain, Emilie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Migaud, Mélanie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grandin, Virginie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Herrera, María T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jabot-Hanin, Fabienne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boisson-Dupuis, Stéphanie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Picard, Capucine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nitschke, Patrick
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Puel, Anne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tores, Frederic
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abel, Laurent
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blancas-Galicia, Lizbeth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Baere, Elfride
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bole-Feysot, Christine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Casanova, Jean-Laurent
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bustamante, Jacinta
773 0# - HOST ITEM ENTRY
Title Journal of clinical immunology
Related parts vol. 38
-- no. 5
-- p. 617-627
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s10875-018-0527-6">https://doi.org/10.1007/s10875-018-0527-6</a>
Public note Available from publisher's website

No items available.