Single-base substitutions in the CHM promoter as a cause of choroideremia. (Record no. 26947212)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01432 a2200433 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517142548.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201802s 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.23212 |
| 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 | Radziwon, Alina |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180220 |
| 245 00 - TITLE STATEMENT | |
| Title | Single-base substitutions in the CHM promoter as a cause of choroideremia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 06 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 704-715 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 | Adaptor Proteins, Signal Transducing |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Choroideremia |
| General subdivision | complications |
| 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 | Genetic Diseases, X-Linked |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 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 |
| 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 | Promoter Regions, Genetic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retina |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinal Degeneration |
| General subdivision | complications |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arno, Gavin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | K Wheaton, Dianna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McDonagh, Ellen M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baple, Emma L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Webb-Jones, Kaylie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | G Birch, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Webster, Andrew R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | MacDonald, Ian M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 38 |
| -- | no. 6 |
| -- | p. 704-715 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23212">https://doi.org/10.1002/humu.23212</a> |
| Public note | Available from publisher's website |
No items available.