A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency. (Record no. 30812904)

MARC details
000 -LEADER
fixed length control field 01494 a2200433 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518094006.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202012s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1735-5249
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.18502/ijaai.v19i1.2422
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 Talebi, Taravat
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20201201
245 00 - TITLE STATEMENT
Title A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Iranian journal of allergy, asthma, and immunology
Date of publication, distribution, etc. Feb 2020
300 ## - PHYSICAL DESCRIPTION
Extent 94-101 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 Adenosine Deaminase
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Agammaglobulinemia
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 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 Iran
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 Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Severe Combined Immunodeficiency
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome Sequencing
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Biglari, Alireza
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shahroeei, Mohammad
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Changi-Ashtiani, Majid
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dinmohammadi, Hossein
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Navabi, Shadi Sadat
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Parvaneh, Nima
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bossuyt, Xavier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shahani, Tina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rokni-Zadeh, Hassan
773 0# - HOST ITEM ENTRY
Title Iranian journal of allergy, asthma, and immunology
Related parts vol. 19
-- no. 1
-- p. 94-101
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.18502/ijaai.v19i1.2422">https://doi.org/10.18502/ijaai.v19i1.2422</a>
Public note Available from publisher's website

No items available.