Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. (Record no. 17518007)

MARC details
000 -LEADER
fixed length control field 01449 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515093746.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200801s 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.9513
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 Gerber, Sylvie
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20080128
245 00 - TITLE STATEMENT
Title Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Dec 2007
300 ## - PHYSICAL DESCRIPTION
Extent 1245 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 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 Family Health
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 Genotype
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Microtubule-Associated 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 Optic Atrophy, Hereditary, Leber
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 Phenotype
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hanein, Sylvain
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Perrault, Isabelle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Delphin, Nathalie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aboussair, Nisrine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leowski, Corinne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dufier, Jean-Louis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roche, Olivier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Munnich, Arnold
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kaplan, Josseline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rozet, Jean-Michel
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 28
-- no. 12
-- p. 1245
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.9513">https://doi.org/10.1002/humu.9513</a>
Public note Available from publisher's website

No items available.