TGFBI-related Corneal Dystrophies (Record no. 66740)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03668nam a22005055i 4500 |
| 001 - CONTROL NUMBER | |
| control field | 978-981-96-0131-8 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20251030114944.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 250220s2024 si | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9789819601318 |
| -- | 978-981-96-0131-8 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/978-981-96-0131-8 |
| Source of number or code | doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RE1-994 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MJQ |
| Source | bicssc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MED063000 |
| Source | bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MJQ |
| Source | thema |
| 245 10 - TITLE STATEMENT | |
| Title | TGFBI-related Corneal Dystrophies |
| Medium | [electronic resource] : |
| Remainder of title | Clinical Findings, Cell Biology, and Genetics / |
| Statement of responsibility, etc. | edited by Eung Kweon Kim, R. Doyle Stulting. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 1st ed. 2024. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Singapore : |
| Name of producer, publisher, distributor, manufacturer | Springer Nature Singapore : |
| -- | Imprint: Springer, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2024. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | IX, 128 p. 65 illus., 58 illus. in color. |
| Other physical details | online resource. |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 347 ## - DIGITAL FILE CHARACTERISTICS | |
| File type | text file |
| Encoding format | |
| Source | rda |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 1. Introduction -- 2. What is TGFBIp and what is its function? -- a.What are TGFBI corneal dystrophies.-I. History of TGFBI corneal dystrophies in Europe -- 3. Classification and mutations of TGFBI Corneal Dystrophies -- a. Dystrophies with deposits primarily in Bowman layer -- I. Reis–Bücklers corneal dystrophy (RBCD) -- II. Thiel–Behnke corneal dystrophy (TBCD) -- b. Dystrophies with deposits primarily in the stroma -- I. Lattice corneal dystrophy with TGFBI mutation -- II. Classic lattice corneal dystrophy (Lattice corneal dystrophy type 1; LCD1) -- III. Variants of lattice corneal dystrophy (III, IIIA, I/IIIA, and IV) -- c. Granular corneal dystrophy -- I. Granular corneal dystrophy type 1 (GCD1) -- II. Granular corneal dystrophy type 2 (GCD2, Avellino CD, Combined granular lattice CD) -- 4. Molecular pathogenesis of GCD2 and TGFBI corneal dystrophies -- 5. Proteolysis of TGFBIp -- 6. Genetics and gene therapy on the TGFBI corneal dystrophies. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | This book provides up-to-date information about the basic cell biology, protein processing mechanisms, genetics, and treatment strategies for TGFBI-related corneal dystrophies. Extensive illustrations document the clinical appearance of these dystrophies, and details of their cell biology provide our current understanding of intracellular pathologic mechanisms related to the mutated TGFBI protein. Descriptions of metabolic pathways involving TGFBI protein include recent information about the intracellular processing of normal and mutated TGFBI proteins. Detailed descriptions of the pathologic basis for TGFBI-related corneal dystrophies and possible strategies for human gene therapy are provided. This book offers a rich source of information about the pathogenesis, diagnosis, and treatment options for practicing ophthalmologists, specialists, and trainees. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 72072 |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 68863 |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 72072 |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 68863 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kim, Eung Kweon. |
| Relator term | editor. |
| Relator code | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 9 (RLIN) | 90866 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stulting, R. Doyle. |
| Relator term | editor. |
| Relator code | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 9 (RLIN) | 90867 |
| 710 2# - ADDED ENTRY--CORPORATE NAME | |
| Corporate name or jurisdiction name as entry element | SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY | |
| Title | Springer Nature eBook |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9789819601301 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9789819601325 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9789819601332 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/978-981-96-0131-8">https://doi.org/10.1007/978-981-96-0131-8</a> |
| 912 ## - | |
| -- | ZDB-2-SME |
| 912 ## - | |
| -- | ZDB-2-SXM |
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