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

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the <i>COL6A2</i> 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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Bibliographic Details
Main Authors: Sofya A. Ionova, Aysylu F. Murtazina, Inna S. Tebieva, Zalina K. Getoeva, Elena L. Dadali, Polina A. Chausova, Olga A. Shchagina, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:International Journal of Molecular Sciences
Subjects:
Republic of North Ossetia-Alania (RNOA)
Digors
<i>COL6A2</i>
Ullrich congenital muscular dystrophy (UCMD)
collagenopathy
high-throughput sequencing (HTS)
Online Access:https://www.mdpi.com/1422-0067/23/20/12127

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https://www.mdpi.com/1422-0067/23/20/12127

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