• Daniel R. Jacobson
  • Joel N. Buxbaum
  • Lap-Chee Tsui
  • Manuel Buchwald
Part of the Advances in Human Genetics book series (AHUG, volume 20)


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 al., unpublished).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).


Cystic Fibrosis Prion Protein Amyloid Precursor Protein Gene Familial Amyloidotic Polyneuropathy CFTR Protein 
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Copyright information

© Plenum Press, New York 1991

Authors and Affiliations

  • Daniel R. Jacobson
  • Joel N. Buxbaum
  • Lap-Chee Tsui
  • Manuel Buchwald

There are no affiliations available

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