Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. (Record no. 22100123)

MARC details
000 -LEADER
fixed length control field 02174 a2200733 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516111826.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201305s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1468-6244
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1136/jmedgenet-2012-100868
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 Guo, Bi-Rong
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20130509
245 00 - TITLE STATEMENT
Title Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. Sep 2012
300 ## - PHYSICAL DESCRIPTION
Extent 563-8 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 Adult
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 Asian People
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element China
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Collagen
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
General subdivision genetics
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 Genome, Human
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glycoproteins
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 Keratoderma, Palmoplantar
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 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 Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single Nucleotide
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Xin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Gang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Jian-Guo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sun, Liang-Dan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Du, Wei-Dong
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Qing
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cui, Yong
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhu, Jun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tang, Xian-Fa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Xiao, Ruo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liu, Yuan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li, Min
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tang, Hua-Yang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yang, Xu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cheng, Hui
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li, Ming
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gao, Min
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li, Ping
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Jian-Bo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Xu, Feng-Ping
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zuo, Xian-Bo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zheng, Xiao-Dong
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Xiao-Guang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yang, Lin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liu, Jian-Jun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Jun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yang, Sen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Xue-Jun
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 49
-- no. 9
-- p. 563-8
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmedgenet-2012-100868">https://doi.org/10.1136/jmedgenet-2012-100868</a>
Public note Available from publisher's website

No items available.