Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. (Record no. 18939900)

MARC details
000 -LEADER
fixed length control field 02541 a2200757 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515174109.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200907s 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.2009.05.007
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 Friedman, James S
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20090702
245 00 - TITLE STATEMENT
Title Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Jun 2009
300 ## - PHYSICAL DESCRIPTION
Extent 792-800 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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 Autoantigens
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 7
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Enzyme-Linked Immunosorbent Assay
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Expression Profiling
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 Genetic Linkage
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 Immunoblotting
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, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oligonucleotide Array Sequence Analysis
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
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retinitis Pigmentosa
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Reverse Transcriptase Polymerase Chain Reaction
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Homology, Amino Acid
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ray, Joseph W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Waseem, Naushin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Johnson, Kory
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brooks, Matthew J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hugosson, Therése
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Breuer, Debra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Branham, Kari E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Krauth, Daniel S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bowne, Sara J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sullivan, Lori S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ponjavic, Vesna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gränse, Lotta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Khanna, Ritu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Trager, Edward H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gieser, Linn M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hughbanks-Wheaton, Dianna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cojocaru, Radu I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ghiasvand, Noor M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chakarova, Christina F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abrahamson, Magnus
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Göring, Harald H H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Webster, Andrew R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Birch, David G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abecasis, Goncalo R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fann, Yang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bhattacharya, Shomi S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Daiger, Stephen P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heckenlively, John R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Andréasson, Sten
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Swaroop, Anand
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 84
-- no. 6
-- p. 792-800
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2009.05.007">https://doi.org/10.1016/j.ajhg.2009.05.007</a>
Public note Available from publisher's website

No items available.