Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype

Amanda Krause, Claire Mitchell, Fahmida Essop, Susan Tager, James Temlett, Giovanni Stevanin, Christopher Ross, Dobrila Rudnicki, Russell Margolis

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Medicine & Life Sciences