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Amyloid
The Journal of Protein Folding Disorders
Volume 12, 2005 - Issue 2
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Original Article

A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population

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Pages 127-130 | Accepted 14 Feb 2005, Published online: 06 Jul 2009

References

  • Benson MD. Amyloidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York, NY: McGraw Hill; 2000. pp 5345–5378.
  • Gorevic PD, Prelli FC, Wright J, Pras M, Frangione B. Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. J Clin Invest 1989;83:836–843.
  • Jacobson DR, Gorevic PD, Buxbaum JN. A homozygous transthyretin variant associated with senile systemic amyloidosis: Evidence for a late-onset disease of genetic etiology. Am J Hum Genet 1990;47:127–136.
  • Nichols WC, Liepnieks JJ, Snyder EL, Benson MD. Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (Ile-122). J Lab Clin Med 1991; 117:175–180.
  • Saraiva MJM, Sherman W, Marboe C, Figueira A, Costa P, De Freitas AF, et al. Cardiac amyloidosis: Report of a patient heterozygous for the transthyretin isoleucine 122 variant. Scan J Immunol 1990;32:341–346.
  • Jacobson DR, Pastore R, Pool S, Malendowicz S, Kane I, Shivji A, et al. Revised transthyretin Ile122 allele frequency in African-Americans. Hum Genet 1996;98:236–238.
  • Jacobson DR, Ittmann M, Buxbaum JN, Wieczorek R, Gorevic PD. Transthyretin Ile122 and cardiac amyloidosis in African-Americans. Tex Heart Inst J 1997;24:45–52.
  • Hamidi Asl K, Nakamura M, Yamashita T, Benson MD. Cardiac amyloidosis associated with the transthyretin Ile122 mutation in a Caucasian family. Amyloid J Protein Folding Disord 2001;8:263–269.
  • Jacobson DR, Reveille JD, Buxbaum JN. Frequency and genetic background of the position 122 (Val?Ile) variant transthyretin gene in the Black population. Am J Hum Genet 1991;49:192–198.
  • Afolabi I, Hamidi Asl K, Nakamura M, Jacobs P, Hendrie H, Benson MD. Transthyretin isoleucine-122 mutation in African and American Blacks. Amyloid Int J Exp Clin Invest 2000;7:121–125.
  • Connors LH, Yamashita T, Masahide Y, Skinner M, Benson MD. A rare transthyretin mutation (Asp18Glu) associated with cardiomyopathy. Amyloid J Protein Folding Disord 2004;11:61–66.
  • Parra EJ, Marcini A, Akey J, Martinson J, Batzer MA, Cooper R, et al. Estimating African American admixture proportions by use of population-specific alleles. Am J Hum Genet 1998;63:1839–1851.

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