Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. (Record no. 21398721)

MARC details
000 -LEADER
fixed length control field 02247 a2200709 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516071015.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201203s 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.2011.11.015
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 Estrada-Cuzcano, Alejandro
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120312
245 00 - TITLE STATEMENT
Title Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Jan 2012
300 ## - PHYSICAL DESCRIPTION
Extent 102-9 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 Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Age of Onset
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Base Sequence
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 Chromosome Mapping
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Consanguinity
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 Exons
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 Genes, Recessive
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 Introns
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 Molecular Sequence Data
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 Polymorphism, Single Nucleotide
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retinal Dystrophies
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retinal Pigment Epithelium
General subdivision metabolism
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Neveling, Kornelia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kohl, Susanne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Banin, Eyal
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rotenstreich, Ygal
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sharon, Dror
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Falik-Zaccai, Tzipora C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hipp, Stephanie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roepman, Ronald
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wissinger, Bernd
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Letteboer, Stef J F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mans, Dorus A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blokland, Ellen A W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kwint, Michael P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gijsen, Sabine J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Huet, Ramon A C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Collin, Rob W J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Scheffer, H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Veltman, Joris A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zrenner, Eberhart
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name den Hollander, Anneke I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Klevering, B Jeroen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cremers, Frans P M
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 90
-- no. 1
-- p. 102-9
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2011.11.015">https://doi.org/10.1016/j.ajhg.2011.11.015</a>
Public note Available from publisher's website

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