The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. (Record no. 10050619)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02057 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513171241.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200004s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0002-9297 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1086/302323 |
| 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 | Maugeri, A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20000405 |
| 245 00 - TITLE STATEMENT | |
| Title | The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Apr 1999 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1024-35 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 | ATP-Binding Cassette Transporters |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 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 | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Corneal Dystrophies, Hereditary |
| General subdivision | epidemiology |
| 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 | Europe |
| General subdivision | epidemiology |
| 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 | Founder Effect |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Frequency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | Incidence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Linkage Disequilibrium |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Genetic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Messenger |
| General subdivision | analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinitis Pigmentosa |
| General subdivision | epidemiology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Driel, M A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van de Pol, D J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klevering, B J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Haren, F J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tijmes, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bergen, A A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rohrschneider, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blankenagel, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pinckers, A J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dahl, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, H G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deutman, A F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoyng, C B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cremers, F P |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 64 |
| -- | no. 4 |
| -- | p. 1024-35 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1086/302323">https://doi.org/10.1086/302323</a> |
| Public note | Available from publisher's website |
No items available.