A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family. (Record no. 26626323)

MARC details
000 -LEADER
fixed length control field 01483 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517124836.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201705s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1878-5883
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.jns.2016.10.027
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 Naseer, Muhammad Imran
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170526
245 00 - TITLE STATEMENT
Title A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of the neurological sciences
Date of publication, distribution, etc. Dec 2016
300 ## - PHYSICAL DESCRIPTION
Extent 121-125 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 Brain
General subdivision physiopathology
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 Developmental Disabilities
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsy
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Family
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 Intellectual Disability
General subdivision genetics
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 Microcephaly
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nuclear Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Saudi Arabia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rasool, Mahmood
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jan, Mohammed M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chaudhary, Adeel G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pushparaj, Peter Natesan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abuzenadah, Adel M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Al-Qahtani, Mohammad H
773 0# - HOST ITEM ENTRY
Title Journal of the neurological sciences
Related parts vol. 371
-- p. 121-125
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.jns.2016.10.027">https://doi.org/10.1016/j.jns.2016.10.027</a>
Public note Available from publisher's website

No items available.