First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online. (Record no. 10606521)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 00964 a2200313 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513202022.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200001s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1059-7794 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Trujillo, M J |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20000124 |
| 245 00 - TITLE STATEMENT | |
| Title | First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 1998 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 213 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 | Choroideremia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| General subdivision | genetics |
| 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 | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sanz, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodriguez de Alba, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lorda, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramos, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ibañez, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | García-Sandoval, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ayuso, C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 12 |
| -- | no. 3 |
| -- | p. 213 |
No items available.