Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. (Record no. 9369576)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01692 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513132337.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199803s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0002-9297 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1086/301646 |
| 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 | Buraczynska, M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19980319 |
| 245 00 - TITLE STATEMENT | |
| Title | Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Dec 1997 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1287-92 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 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 | Exons |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Proteins |
| 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 | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinitis Pigmentosa |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | X Chromosome |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wu, W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fujita, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buraczynska, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Phelps, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andréasson, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bennett, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Birch, D G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fishman, G A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoffman, D R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Inana, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jacobson, S G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Musarella, M A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sieving, P A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Swaroop, A |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 61 |
| -- | no. 6 |
| -- | p. 1287-92 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1086/301646">https://doi.org/10.1086/301646</a> |
| Public note | Available from publisher's website |
No items available.