Article
A Deletion in Duchenne Muscular Dystrophy Gene Found Through Whole Exome Sequencing in Iran.
DNA and cell biology - 1 May 2023
Ameri-Mahabadi Saman, Nikfar Ali, Mansouri Mojdeh, Chiti Hossein, Abhari Gita Fatemi, Parsamanesh Negin
Abstract excerpt
Duchenne muscular dystrophy (DMD) is a severe progressive X-linked neuromuscular illness that affects movement through mutations in dystrophin gene. The mutation leads to insufficient, lack of, or dysfunction of dystrophin. The cause of DMD was determined in an Iranian family. Exome sequencing was carried out along with a complete physical examination of the family. In silico methods were applied to find the...
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