Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. (Record no. 26129192)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01577 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517101824.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201801s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1090-0535 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Kabir, Firoz |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180115 |
| 245 00 - TITLE STATEMENT | |
| Title | Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular vision |
| Date of publication, distribution, etc. | 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 610-25 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 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 | Exons |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Proteins |
| 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 Linkage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome-Wide Association Study |
| 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 | Loss of Function Mutation |
| 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 | Microtubule-Associated Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 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 | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinitis Pigmentosa |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ullah, Inayat |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ali, Shahbaz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gottsch, Alexander D H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Naeem, Muhammad Asif |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Assir, Muhammad Zaman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khan, Shaheen N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Akram, Javed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riazuddin, Sheikh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ayyagari, Radha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hejtmancik, J Fielding |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riazuddin, S Amer |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular vision |
| Related parts | vol. 22 |
| -- | p. 610-25 |
No items available.