De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy. (Record no. 17173157)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01267 a2200361 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515074503.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200709s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0007-1161 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/bjo.2006.103283 |
| 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 | Hilton, E N |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20070911 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The British journal of ophthalmology |
| Date of publication, distribution, etc. | Aug 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1083-4 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Corneal Dystrophies, Hereditary |
| 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 | Extracellular Matrix Proteins |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 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 | Transforming Growth Factor beta |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Black, G C M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manson, F D C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schorderet, D F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Munier, F L |
| 773 0# - HOST ITEM ENTRY | |
| Title | The British journal of ophthalmology |
| Related parts | vol. 91 |
| -- | no. 8 |
| -- | p. 1083-4 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/bjo.2006.103283">https://doi.org/10.1136/bjo.2006.103283</a> |
| Public note | Available from publisher's website |
No items available.