Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity. (Record no. 26556432)

MARC details
000 -LEADER
fixed length control field 01708 a2200517 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517122732.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201701s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1578-1267
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.aller.2016.08.005
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 Fazel, A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170130
245 00 - TITLE STATEMENT
Title Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Allergologia et immunopathologia
Date of publication, distribution, etc.
300 ## - PHYSICAL DESCRIPTION
Extent 82-86 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adrenal Cortex Hormones
General subdivision therapeutic use
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Autoimmunity
General subdivision genetics
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 Cytidine Deaminase
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Dwarfism, Pituitary
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 Genotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Growth Hormone
General subdivision therapeutic use
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hormone Replacement Therapy
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 Hyper-IgM Immunodeficiency Syndrome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Immunoglobulin M
General subdivision blood
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 Iran
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 Pedigree
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 AICDA (Activation-Induced Cytidine Deaminase)
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kashef, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aleyasin, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Harsini, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Karamizadeh, Z
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zoghi, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Flores, S K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boztug, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rezaei, N
773 0# - HOST ITEM ENTRY
Title Allergologia et immunopathologia
Related parts vol. 45
-- no. 1
-- p. 82-86
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.aller.2016.08.005">https://doi.org/10.1016/j.aller.2016.08.005</a>
Public note Available from publisher's website

No items available.