Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs
<h3>Background</h3><p dir="ltr">Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are serious inherited heart diseases with various causative mutations identified. The full spectrum of causative mutations remains to be discovered, especially in understudi...
محفوظ في:
| المؤلف الرئيسي: | Kholoud N. Al‐Shafai (18459009) (author) |
|---|---|
| مؤلفون آخرون: | Mohammed Al‐Hashemi (18459012) (author), Chidambaram Manickam (18434100) (author), Rania Musa (18459015) (author), Senthil Selvaraj (314873) (author), Najeeb Syed (12561967) (author), Fazulur Vempalli (18459018) (author), Muneera Ali (18459021) (author), Magdi Yacoub (6893000) (author), Xavier Estivill (23803) (author) |
| منشور في: |
2021
|
| الموضوعات: | |
| الوسوم: |
إضافة وسم
لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!
|
مواد مشابهة
-
Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy
حسب: Akl C. Fahed (11514346)
منشور في: (2020) -
Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants
حسب: Mohannad N. Khandakji (13885434)
منشور في: (2022) -
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
حسب: Ana Rio-Machin (19686124)
منشور في: (2020) -
The Genetic Pathways Underlying Immunotherapy in Dilated Cardiomyopathy
حسب: Ayat Kadhi (18281710)
منشور في: (2021) -
Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
حسب: Rehab Ali (14152668)
منشور في: (2021)