Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia. (Record no. 29405839)

MARC details
000 -LEADER
fixed length control field 01260 a2200373 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518024315.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201912s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1879-1506
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.archoralbio.2019.02.005
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 Zhang, Tingting
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20191212
245 00 - TITLE STATEMENT
Title Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Archives of oral biology
Date of publication, distribution, etc. Apr 2019
300 ## - PHYSICAL DESCRIPTION
Extent 49-56 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Asian People
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cleidocranial Dysplasia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Core Binding Factor Alpha 1 Subunit
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 Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Splicing
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splice Sites
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome Sequencing
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wu, Jing
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhao, Xiaoxue
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hou, Feifei
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ma, Tengfei
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Huijuan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Xu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Xiangyu
773 0# - HOST ITEM ENTRY
Title Archives of oral biology
Related parts vol. 100
-- p. 49-56
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.archoralbio.2019.02.005">https://doi.org/10.1016/j.archoralbio.2019.02.005</a>
Public note Available from publisher's website

No items available.