TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. (Record no. 19283823)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02197 a2200697 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515193644.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200912s 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.2009.10.013 |
| 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 | Audo, Isabelle |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20091222 |
| 245 00 - TITLE STATEMENT | |
| Title | TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Nov 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 720-9 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 | Electroretinography |
| 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 | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Models, Genetic |
| 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 | Night Blindness |
| General subdivision | congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nuclear Family |
| 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 | TRPM Cation Channels |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kohl, Susanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leroy, Bart P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Munier, Francis L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guillonneau, Xavier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mohand-Saïd, Saddek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bujakowska, Kinga |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nandrot, Emeline F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lorenz, Birgit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Preising, Markus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kellner, Ulrich |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Renner, Agnes B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernd, Antje |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Antonio, Aline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moskova-Doumanova, Veselina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lancelot, Marie-Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poloschek, Charlotte M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drumare, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Defoort-Dhellemmes, Sabine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wissinger, Bernd |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Léveillard, Thierry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamel, Christian P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schorderet, Daniel F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Baere, Elfride |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berger, Wolfgang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jacobson, Samuel G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zrenner, Eberhart |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sahel, José-Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bhattacharya, Shomi S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zeitz, Christina |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 85 |
| -- | no. 5 |
| -- | p. 720-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2009.10.013">https://doi.org/10.1016/j.ajhg.2009.10.013</a> |
| Public note | Available from publisher's website |
No items available.