Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. (Record no. 19701452)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02176 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515215316.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201009s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.21250 |
| 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 | Nikopoulos, Konstantinos |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100927 |
| 245 00 - TITLE STATEMENT | |
| Title | Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Jun 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 656-66 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Binding Sites |
| 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 | Eye Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family Health |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Frizzled Receptors |
| General subdivision | chemistry |
| 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 | LDL-Receptor Related Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Low Density Lipoprotein Receptor-Related Protein-5 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Molecular |
| 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 | Nerve Tissue Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Structure, Secondary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Structure, Tertiary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, G-Protein-Coupled |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinal Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Signal Transduction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vitreoretinopathy, Proliferative |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Wnt Proteins |
| General subdivision | metabolism |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Venselaar, Hanka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collin, Rob W J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riveiro-Alvarez, Rosa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boonstra, F Nienke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hooymans, Johanna M M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mukhopadhyay, Arijit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shears, Deborah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Bers, Marleen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Wijs, Ilse J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Essen, Anthonie J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sijmons, Rolf H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tilanus, Mauk A D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Nouhuys, C Erik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ayuso, Carmen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoefsloot, Lies H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cremers, Frans P M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 31 |
| -- | no. 6 |
| -- | p. 656-66 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.21250">https://doi.org/10.1002/humu.21250</a> |
| Public note | Available from publisher's website |
No items available.