Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness

BACKGROUND: Copy number variations (CNVs) are the major type of structural variation in the human genome, and are more common than DNA sequence variations in populations. CNVs are important factors for human genetic and phenotypic diversity. Many CNVs have been associated with either resistance to d...

Descripción completa

Detalles Bibliográficos
Autores principales: Ji, Haiting, Lu, Jingqiao, Wang, Jianjun, Li, Huawei, Lin, Xi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194081/
https://www.ncbi.nlm.nih.gov/pubmed/25342930
http://dx.doi.org/10.1186/1472-6815-14-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194081/
https://www.ncbi.nlm.nih.gov/pubmed/25342930
http://dx.doi.org/10.1186/1472-6815-14-9

Ejemplares similares