A carregar...
Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
Choroideremia is a rare X-linked recessive inherited disorder that causes chorioretinal dystrophy leading to visual impairment in its early stages which finally causes total blindness in the affected person. It is caused due to mutations in the CHM gene. In this study, we have recruited a pedigree w...
Na minha lista:
| Publicado no: | Appl Clin Genet |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove Medical Press
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5741072/ https://ncbi.nlm.nih.gov/pubmed/29296092 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S144383 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|