Biallelic LINE insertion mutation in HACD1 causing congenital myopathy

Detalles Bibliográficos
Autores principales: Al Amrani, Fatema, Gorodetsky, Carolina, Hazrati, Lili-Naz, Amburgey, Kimberly, Gonorazky, Hernan D., Dowling, James J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Clinical/Scientific Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188472/
https://www.ncbi.nlm.nih.gov/pubmed/32426512
http://dx.doi.org/10.1212/NXG.0000000000000423
_version_ 1783527319710728192
author Al Amrani, Fatema
Gorodetsky, Carolina
Hazrati, Lili-Naz
Amburgey, Kimberly
Gonorazky, Hernan D.
Dowling, James J.
author_facet Al Amrani, Fatema
Gorodetsky, Carolina
Hazrati, Lili-Naz
Amburgey, Kimberly
Gonorazky, Hernan D.
Dowling, James J.
author_sort Al Amrani, Fatema
collection PubMed
description
format Online
Article
Text
id pubmed-7188472
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Wolters Kluwer
record_format MEDLINE/PubMed
spelling pubmed-71884722020-05-18 Biallelic LINE insertion mutation in HACD1 causing congenital myopathy Al Amrani, Fatema Gorodetsky, Carolina Hazrati, Lili-Naz Amburgey, Kimberly Gonorazky, Hernan D. Dowling, James J. Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2020-04-13 /pmc/articles/PMC7188472/ /pubmed/32426512 http://dx.doi.org/10.1212/NXG.0000000000000423 Text en Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Clinical/Scientific Notes
Al Amrani, Fatema
Gorodetsky, Carolina
Hazrati, Lili-Naz
Amburgey, Kimberly
Gonorazky, Hernan D.
Dowling, James J.
Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
title Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
title_full Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
title_fullStr Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
title_full_unstemmed Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
title_short Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
title_sort biallelic line insertion mutation in hacd1 causing congenital myopathy
topic Clinical/Scientific Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188472/
https://www.ncbi.nlm.nih.gov/pubmed/32426512
http://dx.doi.org/10.1212/NXG.0000000000000423
work_keys_str_mv AT alamranifatema bialleliclineinsertionmutationinhacd1causingcongenitalmyopathy
AT gorodetskycarolina bialleliclineinsertionmutationinhacd1causingcongenitalmyopathy
AT hazratililinaz bialleliclineinsertionmutationinhacd1causingcongenitalmyopathy
AT amburgeykimberly bialleliclineinsertionmutationinhacd1causingcongenitalmyopathy
AT gonorazkyhernand bialleliclineinsertionmutationinhacd1causingcongenitalmyopathy
AT dowlingjamesj bialleliclineinsertionmutationinhacd1causingcongenitalmyopathy

Ejemplares similares