A carregar...
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array
Recently, new large variants have been identified in the nebulin gene (NEB) causing nemaline myopathy (NM). NM constitutes a heterogeneous group of disorders among the congenital myopathies, and disease-causing variants in NEB are a main cause of the recessively inherited form of NM. NEB consists of...
Na minha lista:
| Publicado no: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4929883/ https://ncbi.nlm.nih.gov/pubmed/26197980 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.166 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|