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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.
Krause A, Mitchell C, Essop F, Tager S, Temlett J, Stevanin G, Ross C, Rudnicki D, Margolis R. Krause A, et al. Among authors: essop f. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):573-85. doi: 10.1002/ajmg.b.32332. Epub 2015 Jun 16. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26079385 Free PMC article.
A common Fanconi anemia mutation in black populations of sub-Saharan Africa.
Morgan NV, Essop F, Demuth I, de Ravel T, Jansen S, Tischkowitz M, Lewis CM, Wainwright L, Poole J, Joenje H, Digweed M, Krause A, Mathew CG. Morgan NV, et al. Among authors: essop f. Blood. 2005 May 1;105(9):3542-4. doi: 10.1182/blood-2004-10-3968. Epub 2005 Jan 18. Blood. 2005. PMID: 15657175 Free article.
Fanconi anaemia in South Africa: Past, present and future.
Feben C, Wainstein T, Kromberg J, Essop F, Krause A. Feben C, et al. Among authors: essop f. S Afr Med J. 2018 Apr 25;108(5):393-398. doi: 10.7196/SAMJ.2018.v108i5.13004. S Afr Med J. 2018. PMID: 29843852 Review.
17 results