A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. (Record no. 21251455)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01981 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516061813.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201201s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.976 |
| 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 | Raychaudhuri, Soumya |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120120 |
| 245 00 - TITLE STATEMENT | |
| Title | A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Oct 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1232-6 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 | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged, 80 and over |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Case-Control Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Complement Factor H |
| General subdivision | genetics |
| 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 Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| 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 | Linkage Disequilibrium |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Macular Degeneration |
| General subdivision | genetics |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Penetrance |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Principal Component Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Risk Factors |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iartchouk, Oleg |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chin, Kimberly |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tan, Perciliz L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tai, Albert K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ripke, Stephan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gowrisankar, Sivakumar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vemuri, Soumya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Montgomery, Kate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yu, Yi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reynolds, Robyn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zack, Donald J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campochiaro, Betsy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campochiaro, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Katsanis, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daly, Mark J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seddon, Johanna M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 43 |
| -- | no. 12 |
| -- | p. 1232-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.976">https://doi.org/10.1038/ng.976</a> |
| Public note | Available from publisher's website |
No items available.