Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. (Record no. 22555299)

MARC details
000 -LEADER
fixed length control field 01917 a2200577 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516140146.0
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 1552-5783
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1167/iovs.12-10967
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 Chen, Xuejuan
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20130514
245 00 - TITLE STATEMENT
Title Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Investigative ophthalmology & visual science
Date of publication, distribution, etc. Mar 2013
300 ## - PHYSICAL DESCRIPTION
Extent 2186-97 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 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 Cohort Studies
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 Genetic Predisposition to Disease
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element High-Throughput Nucleotide Sequencing
General subdivision methods
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 Microarray Analysis
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 Retinal Dystrophies
General subdivision congenital
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhao, Kanxing
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sheng, Xunlun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li, Yang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gao, Xiang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Xiumei
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kang, Xiaoli
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pan, Xinyuan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liu, Yuan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jiang, Chao
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shi, Houxia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Xue
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rong, Weining
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Li Jia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lai, Tim Yuk Yau
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liu, Yani
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Xiuying
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yuan, Songtao
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liu, Qinghuai
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vollrath, Douglas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pang, Chi Pui
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhao, Chen
773 0# - HOST ITEM ENTRY
Title Investigative ophthalmology & visual science
Related parts vol. 54
-- no. 3
-- p. 2186-97
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1167/iovs.12-10967">https://doi.org/10.1167/iovs.12-10967</a>
Public note Available from publisher's website

No items available.