Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. (Record no. 20685716)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01676 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516030639.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201108s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmg.2010.085100 |
| 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 | Parry, Erin M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110826 |
| 245 00 - TITLE STATEMENT | |
| Title | Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | May 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 327-33 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; 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 | Cell Cycle Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dyskeratosis Congenita |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Linkage |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant, Newborn |
| 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 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nuclear Proteins |
| General subdivision | genetics |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pulmonary Fibrosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Regulatory Elements, Transcriptional |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Telomerase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Telomere |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | X Chromosome Inactivation |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alder, Jonathan K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Stella S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Phillips, John A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loyd, James E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duggal, Priya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Armanios, Mary |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 48 |
| -- | no. 5 |
| -- | p. 327-33 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmg.2010.085100">https://doi.org/10.1136/jmg.2010.085100</a> |
| Public note | Available from publisher's website |
No items available.