Carregant...

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

BACKGROUND: Recessive mutations in GJB2 is the most common cause of genetic hearing loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 variants in Chinese Han deaf patients and to investigate the underlying causative genes in patients with mono-allelic GJB2 muta...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Yu, Xiaoyu, Lin, Yun, Xu, Jun, Che, Tuanjie, Li, Lin, Yang, Tao, Wu, Hao
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6986010/
https://ncbi.nlm.nih.gov/pubmed/31992338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-1311-2
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!