Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons conta...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Lehtokari, Vilma-Lotta, Kiiski, Kirsi, Sandaradura, Sarah A., Laporte, Jocelyn, Repo, Pauliina, Frey, Jennifer A., Donner, Kati, Marttila, Minttu, Saunders, Carol, Barth, Peter G., den Dunnen, Johan T., Beggs, Alan H., Clarke, Nigel F., North, Kathryn N., Laing, Nigel G., Romero, Norma B., Winder, Thomas L., Pelin, Katarina, Wallgren-Pettersson, Carina
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4295925/
https://ncbi.nlm.nih.gov/pubmed/25205138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22693
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