Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability. (Record no. 29114811)

MARC details
000 -LEADER
fixed length control field 01577 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518011941.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201905s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1932-6203
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1371/journal.pone.0208324
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 McSherry, Megan
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20190508
245 00 - TITLE STATEMENT
Title Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. PloS one
Date of publication, distribution, etc. 2018
300 ## - PHYSICAL DESCRIPTION
Extent e0208324 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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 Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Codon, Nonsense
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 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 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 Membrane Proteins
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 Point Mutation
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Masih, Katherine E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elcioglu, Nursel H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Celik, Pelin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Balci, Ozge
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cengiz, Filiz Basak
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nunez, Daniella
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sineni, Claire J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Seyhan, Serhat
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kocaoglu, Defne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guo, Shengru
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Duman, Duygu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bademci, Guney
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tekin, Mustafa
773 0# - HOST ITEM ENTRY
Title PloS one
Related parts vol. 13
-- no. 11
-- p. e0208324
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1371/journal.pone.0208324">https://doi.org/10.1371/journal.pone.0208324</a>
Public note Available from publisher's website

No items available.