Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. (Record no. 26312350)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01783 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517111338.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201706s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddw254 |
| 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 | Downs, Louise M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170609 |
| 245 00 - TITLE STATEMENT | |
| Title | Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | 10 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 4211-4226 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calmodulin-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cilia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Disease Models, Animal |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dogs |
| 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 | Leber Congenital Amaurosis |
| 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 | Photoreceptor Cells |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retina |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinal Cone Photoreceptor Cells |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinal Rod Photoreceptor Cells |
| General subdivision | metabolism |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scott, Erin M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cideciyan, Artur V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iwabe, Simone |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dufour, Valerie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gardiner, Kristin L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Genini, Sem |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marinho, Luis Felipe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sumaroka, Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kosyk, Mychajlo S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Swider, Malgorzata |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aguirre, Geoffrey K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jacobson, Samuel G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beltran, William A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aguirre, Gustavo D |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 25 |
| -- | no. 19 |
| -- | p. 4211-4226 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddw254">https://doi.org/10.1093/hmg/ddw254</a> |
| Public note | Available from publisher's website |
No items available.