Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. (Record no. 21518066)

MARC details
000 -LEADER
fixed length control field 02439 a2200757 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516075222.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201206s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2011.12.023
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 Lines, Matthew A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120619
245 00 - TITLE STATEMENT
Title Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Feb 2012
300 ## - PHYSICAL DESCRIPTION
Extent 369-77 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 Abnormalities, Multiple
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alleles
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 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 Cohort Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
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 GTP Phosphohydrolases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Haploinsufficiency
General subdivision genetics
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mandibulofacial Dysostosis
General subdivision genetics
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 Molecular Sequence Data
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 Protein Structure, Tertiary
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splicing
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ribonucleoprotein, U5 Small Nuclear
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Spliceosomes
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Huang, Lijia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwartzentruber, Jeremy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Douglas, Stuart L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lynch, Danielle C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beaulieu, Chandree
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guion-Almeida, Maria Leine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zechi-Ceide, Roseli Maria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gener, Blanca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gillessen-Kaesbach, Gabriele
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nava, Caroline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baujat, Geneviève
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Horn, Denise
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kini, Usha
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Caliebe, Almuth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Alanay, Yasemin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Utine, Gulen Eda
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lev, Dorit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kohlhase, Jürgen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grix, Arthur W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lohmann, Dietmar R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hehr, Ute
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Böhm, Detlef
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Majewski, Jacek
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bulman, Dennis E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wieczorek, Dagmar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boycott, Kym M
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 90
-- no. 2
-- p. 369-77
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2011.12.023">https://doi.org/10.1016/j.ajhg.2011.12.023</a>
Public note Available from publisher's website

No items available.