Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. (Record no. 24735852)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01754 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517023124.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201509s 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 | Ravesh, Zeinab |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150911 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular vision |
| Date of publication, distribution, etc. | 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 236-43 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 | Adult |
| 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 | 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 | Exons |
| 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 | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Middle Aged |
| 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 | Pakistan |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinitis Pigmentosa |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Asrag, Mohammed E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weisschuh, Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKibbin, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reuter, Peggy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Watson, Christopher M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baumann, Britta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poulter, James A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sajid, Sundus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Panagiotou, Evangelia S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Sullivan, James |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abdelhamed, Zakia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonin, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Soltanifar, Mehdi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Black, Graeme C M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amin-ud Din, Muhammad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toomes, Carmel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ansar, Muhammad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Inglehearn, Chris F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wissinger, Bernd |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ali, Manir |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular vision |
| Related parts | vol. 21 |
| -- | p. 236-43 |
No items available.