Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family. (Record no. 22360589)

MARC details
000 -LEADER
fixed length control field 01479 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516125235.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201308s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.22260
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 Laurie, Kate J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20130812
245 00 - TITLE STATEMENT
Title Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Mar 2013
300 ## - PHYSICAL DESCRIPTION
Extent 435-8 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 Blotting, Western
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cataract
General subdivision congenital
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Crystallins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Dominant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
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, Missense
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element South Australia
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element alpha-Crystallins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dave, Alpana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Straga, Tania
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Souzeau, Emmanuelle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chataway, Timothy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sykes, Matthew J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Casey, Theresa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Teo, Theodosia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pater, John
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Craig, Jamie E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sharma, Shiwani
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Burdon, Kathryn P
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 34
-- no. 3
-- p. 435-8
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.22260">https://doi.org/10.1002/humu.22260</a>
Public note Available from publisher's website

No items available.