Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B). (Record no. 30877908)

MARC details
000 -LEADER
fixed length control field 01476 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518095953.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202005s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1879-0038
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.gene.2020.144683
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 Al-Eitan, Laith
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200518
245 00 - TITLE STATEMENT
Title Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B).
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Gene
Date of publication, distribution, etc. Jul 2020
300 ## - PHYSICAL DESCRIPTION
Extent 144683 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 Amino Acid Sequence
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 Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fatal Outcome
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 Jordan
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
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Niemann-Pick Disease, Type A
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Niemann-Pick Disease, Type B
General subdivision enzymology
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 Sphingomyelin Phosphodiesterase
General subdivision chemistry
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Alqa'qa', Kifah
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Amayreh, Wajdi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aljamal, Hanan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Khasawneh, Rame
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Al-Zoubi, Batool
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Okour, Israa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Haddad, Amany
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Haddad, Yazan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Haddad, Hazem
773 0# - HOST ITEM ENTRY
Title Gene
Related parts vol. 747
-- p. 144683
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.gene.2020.144683">https://doi.org/10.1016/j.gene.2020.144683</a>
Public note Available from publisher's website

No items available.