Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. (Record no. 19888547)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01695 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515225519.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201008s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-2079 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/bjo.2009.171892 |
| 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 | Shahzadi, Amber |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100819 |
| 245 00 - TITLE STATEMENT | |
| Title | Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The British journal of ophthalmology |
| Date of publication, distribution, etc. | Aug 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1094-9 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 2 |
| 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 | Electroretinography |
| 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 Linkage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | Lod Score |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proto-Oncogene Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptor Protein-Tyrosine Kinases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinitis Pigmentosa |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Visual Acuity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | c-Mer Tyrosine Kinase |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riazuddin, S Amer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ali, Shahbaz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khan, Shaheen N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Husnain, Tayyab |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Akram, Javed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sieving, Paul A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hejtmancik, J Fielding |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riazuddin, Sheikh |
| 773 0# - HOST ITEM ENTRY | |
| Title | The British journal of ophthalmology |
| Related parts | vol. 94 |
| -- | no. 8 |
| -- | p. 1094-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/bjo.2009.171892">https://doi.org/10.1136/bjo.2009.171892</a> |
| Public note | Available from publisher's website |
No items available.