Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. (Record no. 8018897)

MARC details
000 -LEADER
fixed length control field 01730 a2200565 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513054807.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 199408s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1059-7794
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.1380030326
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 Grüning, G
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 19940804
245 00 - TITLE STATEMENT
Title Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. 1994
300 ## - PHYSICAL DESCRIPTION
Extent 321-3 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aged
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 Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Codon
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, Dominant
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 Intermediate Filament Proteins
General subdivision genetics
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 Glycoproteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Middle Aged
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 Nerve Tissue Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neuropeptides
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 Peripherins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymerase Chain Reaction
General subdivision methods
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 Rod Cell Outer Segment
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Millan, J M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meins, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beneyto, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Caballero, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Apfelstedt-Sylla, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bosch, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zrenner, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Prieto, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gal, A
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 3
-- no. 3
-- p. 321-3
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.1380030326">https://doi.org/10.1002/humu.1380030326</a>
Public note Available from publisher's website

No items available.