The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. (Record no. 27952453)
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|---|---|
| fixed length control field | 02570 a2200817 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517193629.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201903s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-1203 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00439-017-1862-z |
| 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 | Tranebjærg, Lisbeth |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190326 |
| 245 00 - TITLE STATEMENT | |
| Title | The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human genetics |
| Date of publication, distribution, etc. | Feb 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 111-127 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 | 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 | Cerebellar Ataxia |
| General subdivision | epidemiology |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Denmark |
| General subdivision | epidemiology |
| 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 | Foot Deformities, Congenital |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germany |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss, Central |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss, Sensorineural |
| General subdivision | epidemiology |
| 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 | Molecular Dynamics Simulation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Optic Atrophy |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reflex, Abnormal |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retrospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sodium-Potassium-Exchanging ATPase |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sweden |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strenzke, Nicola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindholm, Sture |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rendtorff, Nanna D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poulsen, Hanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khandelia, Himanshu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kopec, Wojciech |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lyngbye, Troels J Brünnich |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamel, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delettre, Cecile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bocquet, Beatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bille, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Owen, Hanne H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bek, Toke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jensen, Hanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Østergaard, Karen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Möller, Claes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Luxon, Linda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carr, Lucinda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wilson, Louise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rajput, Kaukab |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sirimanna, Tony |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harrop-Griffiths, Katherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rahman, Shamima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vona, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Doll, Julia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haaf, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bartsch, Oliver |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosewich, Hendrik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moser, Tobias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bitner-Glindzicz, Maria |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human genetics |
| Related parts | vol. 137 |
| -- | no. 2 |
| -- | p. 111-127 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00439-017-1862-z">https://doi.org/10.1007/s00439-017-1862-z</a> |
| Public note | Available from publisher's website |
No items available.