The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

Here, we described three affected boys from two unrelated families of Ossetian-Digor origin from the Republic of North Ossetia-Alania who were admitted to the Research Centre for Medical Genetics with unspecified muscular dystrophy. High-throughput sequencing was performed and revealed two novel fra...

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Detalles Bibliográficos
Autores principales: Ionova, Sofya A., Murtazina, Aysylu F., Tebieva, Inna S., Getoeva, Zalina K., Dadali, Elena L., Chausova, Polina A., Shchagina, Olga A., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602836/
https://www.ncbi.nlm.nih.gov/pubmed/36292982
http://dx.doi.org/10.3390/ijms232012127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602836/
https://www.ncbi.nlm.nih.gov/pubmed/36292982
http://dx.doi.org/10.3390/ijms232012127

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