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