Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.

Abstract excerpt

This review highlights molecular genetic studies of monogenic traits where common pathogenic mutations occur in black families from sub-Saharan Africa. Examples of founder mutations have been identified for oculocutaneous albinism, cystic fibrosis, Fanconi anemia, and Gaucher disease. Although there are few studies from Africa, some of the mutations traverse populations across the continent, and they are almost...

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• Share to Africa South of the Sahara
• Share to Black People
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