A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. (Record no. 25096279)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02138 a2200673 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517043114.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201605s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1553-7404 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1371/journal.pgen.1005386 |
| 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 | Nyegaard, Mette |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160503 |
| 245 00 - TITLE STATEMENT | |
| Title | A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | PLoS genetics |
| Date of publication, distribution, etc. | Jul 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e1005386 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 | Animals |
| 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 | Cell Line |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Deafness |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Denmark |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endolyn |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 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 | HEK293 Cells |
| 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 | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice, Inbred C57BL |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microsatellite Repeats |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Organ of Corti |
| General subdivision | metabolism |
| 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 | Polymorphism, Single Nucleotide |
| General subdivision | genetics |
| 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 | Rendtorff, Nanna D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nielsen, Morten S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corydon, Thomas J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Demontis, Ditte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Starnawska, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hedemand, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buniello, Annalisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Niola, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Overgaard, Michael T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leal, Suzanne M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ahmad, Wasim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wikman, Friedrik P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petersen, Kirsten B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crüger, Dorthe G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oostrik, Jaap |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kremer, Hannie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tommerup, Niels |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frödin, Morten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steel, Karen P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tranebjærg, Lisbeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Børglum, Anders D |
| 773 0# - HOST ITEM ENTRY | |
| Title | PLoS genetics |
| Related parts | vol. 11 |
| -- | no. 7 |
| -- | p. e1005386 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1371/journal.pgen.1005386">https://doi.org/10.1371/journal.pgen.1005386</a> |
| Public note | Available from publisher's website |
No items available.