Article
Long-Term Patient-Customized Therapy for a Pathogenic EPO Mutation.
Med (New York, N.Y.) - 15 Jan 2021
Ejaz Ayesha, Ozcan Alper, Unal Ekrem, Karakukcu Musa, Sankaran Vijay G
Abstract excerpt
BACKGROUND: Recent advances in genomics have enabled the successful identification of a number of rare pathogenic mutations. Uncovering these mutations is essential as the first step towards devising a cure for the often debilitating and life-limiting diseases arising from them. For many of these mutations targeted agents do not yet exist. Here, we describe the case of a patient who has a novel pathogenic...
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