A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. (Record no. 12253360)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01123 a2200337 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514052320.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200306s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0001-5652 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1159/000066694 |
| 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 | Shi, Yi-Ru |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20030611 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human heredity |
| Date of publication, distribution, etc. | 2002 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 54-6 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 | Adolescent |
| 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 | Codon, Nonsense |
| 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 | Membrane Transport Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Osteochondrodysplasias |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Cheng-Chun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hsu, Yu-An |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Chung-Hsing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tsai, Fuu-Jen |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human heredity |
| Related parts | vol. 54 |
| -- | no. 1 |
| -- | p. 54-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1159/000066694">https://doi.org/10.1159/000066694</a> |
| Public note | Available from publisher's website |
No items available.