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Volumn 9, Issue 1, 2007, Pages 127-131

Homozygous transthyretin mutation in an African American male

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; CONGO RED; ISOLEUCINE; PREALBUMIN; VALINE; PRIMER DNA;

EID: 33947513919     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2007.060061     Document Type: Article
Times cited : (10)

References (16)
  • 2
    • 0042709605 scopus 로고    scopus 로고
    • Molecular mechanisms of amyloidosis
    • Merlini G, Bellotti V: Molecular mechanisms of amyloidosis. N Engl J Med 2003, 349:583-590
    • (2003) N Engl J Med , vol.349 , pp. 583-590
    • Merlini, G.1    Bellotti, V.2
  • 3
    • 0028813176 scopus 로고
    • Amyloidosis and endomyocardial biopsy: Correlation of extent and pattern of deposition with amyloid immunophenotype in 100 cases
    • Crotty TB, Lee C-Y, Edwards WD, Suman VJ: Amyloidosis and endomyocardial biopsy: correlation of extent and pattern of deposition with amyloid immunophenotype in 100 cases. Cardiovasc Pathol 1995, 4:39-42
    • (1995) Cardiovasc Pathol , vol.4 , pp. 39-42
    • Crotty, T.B.1    Lee, C.-Y.2    Edwards, W.D.3    Suman, V.J.4
  • 5
    • 0036915054 scopus 로고    scopus 로고
    • Laboratory assessment of transthyretin amyloidosis
    • Benson MD, Yazaki M, Magy N: Laboratory assessment of transthyretin amyloidosis. Clin Chem Lab Med 2002, 40:1262-1265
    • (2002) Clin Chem Lab Med , vol.40 , pp. 1262-1265
    • Benson, M.D.1    Yazaki, M.2    Magy, N.3
  • 8
    • 0242659289 scopus 로고    scopus 로고
    • An online assay for clinical detection of amyloidogenic transthyretin variants directly from serum
    • Bergen 3rd HR, Zeldenrust SR, Naylor S: An online assay for clinical detection of amyloidogenic transthyretin variants directly from serum. Amyloid 2003, 10:190-197
    • (2003) Amyloid , vol.10 , pp. 190-197
    • Bergen 3rd, H.R.1    Zeldenrust, S.R.2    Naylor, S.3
  • 11
    • 0024560416 scopus 로고
    • Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: Immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy
    • 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
    • (1989) J Clin Invest , vol.83 , pp. 836-843
    • Gorevic, P.D.1    Prelli, F.C.2    Wright, J.3    Pras, M.4    Frangione, B.5
  • 13
    • 0025335359 scopus 로고
    • A homozygous transthyretin variant associated with senile systemic amyloidosis: Evidence for a late-onset disease of genetic etiology
    • 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
    • (1990) Am J Hum Genet , vol.47 , pp. 127-136
    • Jacobson, D.R.1    Gorevic, P.D.2    Buxbaum, J.N.3
  • 14
    • 44949277138 scopus 로고
    • Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122)
    • 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
    • (1991) J Lab Clin Med , vol.117 , pp. 175-180
    • Nichols, W.C.1    Liepnieks, J.J.2    Snyder, E.L.3    Benson, M.D.4
  • 15
    • 0034083637 scopus 로고    scopus 로고
    • Inclusion body myositis, muscle blood vessel and cardiac amyloidosis, and transthyretin VAL122Ile allele
    • Askanas V, Engel WK, Alvarez RB, Frangione B, Ghiso J, Vidal A: Inclusion body myositis, muscle blood vessel and cardiac amyloidosis, and transthyretin VAL122Ile allele. Ann Neurol 2000, 47:544-549
    • (2000) Ann Neurol , vol.47 , pp. 544-549
    • Askanas, V.1    Engel, W.K.2    Alvarez, R.B.3    Frangione, B.4    Ghiso, J.5    Vidal, A.6
  • 16
    • 2942599707 scopus 로고    scopus 로고
    • Native state stabilization by NSAIDs inhibits transthyretin amyloidogenesis from the most common familial disease variants
    • Miller SR, Sekijima Y, Kelly JW: Native state stabilization by NSAIDs inhibits transthyretin amyloidogenesis from the most common familial disease variants. Lab Invest 2004, 84:545-552
    • (2004) Lab Invest , vol.84 , pp. 545-552
    • Miller, S.R.1    Sekijima, Y.2    Kelly, J.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.