Dec. 3, 2021

Hemophilia A | Investigating myself

Hemophilia A | Investigating myself

Episode 397. Investigating myself. Topic: Hemophilia A.  

What is hemophilia and how was it understood by doctors (and religions) before genetics? What are the two main types of hemophilia? How does hemophilia A work? Do I carry this disease?  

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Methodology notes: The gene F8 (OMIM: 300841 ) was searched for ClinVar or functional mutations. Additionally, reads were visually compared against the hg38 reference using the UCSC genome browser for larger mutations.