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...

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Detalles Bibliográficos
Autores principales: Yang, Lisha, Ijaz, Iqra, Cheng, Jingliang, Wei, Chunli, Tan, Xiaojun, Khan, Md Asaduzzaman, Fu, Xiaodong, Fu, Junjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2017
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741072/
https://www.ncbi.nlm.nih.gov/pubmed/29296092
http://dx.doi.org/10.2147/TACG.S144383

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741072/
https://www.ncbi.nlm.nih.gov/pubmed/29296092
http://dx.doi.org/10.2147/TACG.S144383

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