Mutation spectrum of congenital heart disease in a consanguineous Turkish population

BACKGROUNDS: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. METHODS: We recruited 73 CHD probands from consanguineous families in Turkey and used whole‐exome sequencing (WES) t...

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Detalles Bibliográficos
Autores principales: Dong, Weilai, Kaymakcalan, Hande, Jin, Sheng Chih, Diab, Nicholas S., Tanıdır, Cansaran, Yalcin, Ali Seyfi Yalim, Ercan‐Sencicek, A. Gulhan, Mane, Shrikant, Gunel, Murat, Lifton, Richard P., Bilguvar, Kaya, Brueckner, Martina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184665/
https://www.ncbi.nlm.nih.gov/pubmed/35481623
http://dx.doi.org/10.1002/mgg3.1944

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184665/
https://www.ncbi.nlm.nih.gov/pubmed/35481623
http://dx.doi.org/10.1002/mgg3.1944

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