A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. (Record no. 24140773)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01440 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516231605.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201505s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5454 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/eye.2014.196 |
| 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 | Huang, Y |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150521 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Eye (London, England) |
| Date of publication, distribution, etc. | Nov 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1364-9 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 | Asian People |
| General subdivision | genetics |
| 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 | China |
| 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 | Eye Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fluorescein Angiography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Frameshift Mutation |
| 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 | Male |
| 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 | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinoschisis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tomography, Optical Coherence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Visual Acuity |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mei, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gui, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Su, W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liang, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wu, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pan, Q |
| 773 0# - HOST ITEM ENTRY | |
| Title | Eye (London, England) |
| Related parts | vol. 28 |
| -- | no. 11 |
| -- | p. 1364-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/eye.2014.196">https://doi.org/10.1038/eye.2014.196</a> |
| Public note | Available from publisher's website |
No items available.