De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. (Record no. 15478108)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01564 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514223116.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200504s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0002-9394 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajo.2004.10.002 |
| 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 | Yoshimura, Keiko |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050425 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of ophthalmology |
| Date of publication, distribution, etc. | Apr 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 733-5 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Coloboma |
| General subdivision | genetics |
| 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 | DNA-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| General subdivision | genetics |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Optic Disk |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Optic Nerve |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | PAX2 Transcription Factor |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ultrasonography |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yoshida, Shigeo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yamaji, Yoko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Komori, Aiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yoshida, Ayako |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hatae, Ken |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kubota, Toshiaki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ishibashi, Tatsuro |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of ophthalmology |
| Related parts | vol. 139 |
| -- | no. 4 |
| -- | p. 733-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajo.2004.10.002">https://doi.org/10.1016/j.ajo.2004.10.002</a> |
| Public note | Available from publisher's website |
No items available.