Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. (Record no. 16115654)

MARC details
000 -LEADER
fixed length control field 02327 a2200685 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515015629.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200604s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0146-0404
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1167/iovs.05-0848
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 Yzer, Suzanne
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20060403
245 00 - TITLE STATEMENT
Title Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Investigative ophthalmology & visual science
Date of publication, distribution, etc. Mar 2006
300 ## - PHYSICAL DESCRIPTION
Extent 1167-76 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 Adaptor Proteins, Signal Transducing
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alcohol Oxidoreductases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Blindness
General subdivision congenital
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Carrier Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Eye Proteins
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 Genetic Testing
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Guanylate Cyclase
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 Infant
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 Membrane Proteins
General subdivision genetics
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 Nerve Tissue Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oligonucleotide Array Sequence Analysis
General subdivision methods
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 Receptors, Cell Surface
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retinitis Pigmentosa
General subdivision congenital
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element cis-trans-Isomerases
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leroy, Bart P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Baere, Elfride
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Ravel, Thomy J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zonneveld, Marijke N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Voesenek, Krysta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kellner, Ulrich
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ciriano, Jose P Martinez
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Faber, Jan-Tjeerd H N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rohrschneider, Klaus
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roepman, Ronald
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name den Hollander, Anneke I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cruysberg, Johannes R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meire, Françoise
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Casteels, Ingele
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Moll-Ramirez, Norka G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Allikmets, Rando
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van den Born, L Ingeborgh
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cremers, Frans P M
773 0# - HOST ITEM ENTRY
Title Investigative ophthalmology & visual science
Related parts vol. 47
-- no. 3
-- p. 1167-76
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1167/iovs.05-0848">https://doi.org/10.1167/iovs.05-0848</a>
Public note Available from publisher's website

No items available.