Article
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.
Genetic testing and molecular biomarkers - 1 Dec 2021
Salih Mustafa A, Hamad Muddathir H, Savarese Marco, Alorainy Ibrahim A, Al-Jarallah Abdullah S, Alkhalidi Hisham, AlQudairy Hanan, Albader Anoud, Alotaibi Amal Jahz, Alsagob Maysoon, Al-Bakheet Albandary, Colak Dilek, Udd Bjarne, Kaya Namik
Abstract excerpt
Aim: Our goal was to determine the genetic basis of early-onset myopathy in patients from two unrelated families. Materials and Methods: Whole-exome sequencing, autozygosity mapping, and confirmatory targeted Sanger sequencing were performed using genomic DNA extracted from blood samples from three myopathic patients of two unrelated families. Variant filtering and pathogenicity analyses were evaluated according...
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