Dystrophin gene mutations in two different ethnic families in Azerbaijan Republic
Autor: | N. A. Badalova, S. A. Aghayeva, A. M. Mammadov, Genetic Resources Instituteof Anas |
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Rok vydání: | 2020 |
Předmět: | |
Zdroj: | Scientific Bulletin. 3:157-163 |
ISSN: | 2789-4614 2789-4606 |
Popis: | Two different mutations: deletion of 13 exons (from 8th to 20th exons) in one index patient and deletion of 45th exon in the second one were identified by molecular genetical analysis for patients with Duchenne muscle dystrophy diagnosis from different ethnic groups, residing in Azerbaijan. Taking into account reproductive age of parents, the prenatal diagnosis of fetus is recommended for the following pregnancies. |
Databáze: | OpenAIRE |
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