A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy. (Record no. 29595900)
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|---|---|
| fixed length control field | 02724 a2200841 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518033922.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201905s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2041-1723 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/s41467-019-09719-4 |
| 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 | Bjornsdottir, Gyda |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190528 |
| 245 00 - TITLE STATEMENT | |
| Title | A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature communications |
| Date of publication, distribution, etc. | 04 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1777 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Age of Onset |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Axons |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Case-Control Studies |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Follow-Up Studies |
| 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 | 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 | Iceland |
| General subdivision | epidemiology |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neural Conduction |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peripherins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polyneuropathies |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prevalence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splice Sites |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sural Nerve |
| General subdivision | physiopathology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ivarsdottir, Erna V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bjarnadottir, Kristbjorg |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benonisdottir, Stefania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gylfadottir, Sandra Sif |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arnadottir, Gudny A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benediktsson, Rafn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Halldorsson, Gisli Hreinn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helgadottir, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jonasdottir, Adalbjorg |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jonasdottir, Aslaug |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jonsdottir, Ingileif |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kristinsdottir, Anna Margret |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magnusson, Olafur Th |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masson, Gisli |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Melsted, Pall |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rafnar, Thorunn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sigurdsson, Asgeir |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sigurdsson, Gunnar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Skuladottir, Astros |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steinthorsdottir, Valgerdur |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Styrkarsdottir, Unnur |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thorgeirsson, Gudmundur |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thorleifsson, Gudmar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vikingsson, Arnor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gudbjartsson, Daniel F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holm, Hilma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stefansson, Hreinn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thorsteinsdottir, Unnur |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Norddahl, Gudmundur L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sulem, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thorgeirsson, Thorgeir E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stefansson, Kari |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature communications |
| Related parts | vol. 10 |
| -- | no. 1 |
| -- | p. 1777 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41467-019-09719-4">https://doi.org/10.1038/s41467-019-09719-4</a> |
| Public note | Available from publisher's website |
No items available.