Abstract
Recent investigations confirm the significance of TTR 122 (Val→Ile) in cardiac TTR-amyloidosis and its frequency in the Black population. Two additional Blacks with TTR-amyloid in the heart have been found who were heterozygous for the variant (D. R. Jacobson, et. al., unpublished). Studies of other genetic loci in young, healthy TTR 122 (Val→Ile) heterozygotes do not demonstrate a close relationship among them, supporting the conclusion of a 0.01 gene frequency in Blacks (Jacobson, et. al., 1991).
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Jacobson, D.R., Buxbaum, J.N., Tsui, LC., Buchwald, M. (1991). Addenda. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 20. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5958-6_6
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DOI: https://doi.org/10.1007/978-1-4684-5958-6_6
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