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Volumn 5, Issue 4, 1998, Pages 285-287

A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis

Author keywords

Cardiomyopathy; Tramthyretin gene mutation; Transthyretin amyloidosis

Indexed keywords

ASPARTIC ACID; DNA; GLUTAMIC ACID; PREALBUMIN;

EID: 0032242890     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.3109/13506129809007302     Document Type: Article
Times cited : (8)

References (8)
  • 2
    • 0028969996 scopus 로고
    • Transthyretin mutations in health and disease
    • Saraiva MJM (1995). Transthyretin mutations in health and disease. Hum Mutat 5, 191-196
    • (1995) Hum Mutat , vol.5 , pp. 191-196
    • Saraiva, M.J.M.1
  • 3
    • 0031026813 scopus 로고    scopus 로고
    • Aging, amyloid and cardiomyopathy
    • Benson MD (1997) Aging, amyloid and cardiomyopathy. N Engl J Med 336, 502-504
    • (1997) N Engl J Med , vol.336 , pp. 502-504
    • Benson, M.D.1
  • 5
    • 0031012126 scopus 로고    scopus 로고
    • Transthyretin Ile20, a new variant associated with late-onset cardiac amyloidosis
    • Jacobson DR, Pan T, Kyle RA and Buxbaum JN (1997). Transthyretin Ile20, a new variant associated with late-onset cardiac amyloidosis. Hum Mutat 9, 83-85
    • (1997) Hum Mutat , vol.9 , pp. 83-85
    • Jacobson, D.R.1    Pan, T.2    Kyle, R.A.3    Buxbaum, J.N.4
  • 6
    • 0025311146 scopus 로고
    • Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: Transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)
    • Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, Tarui S (1990). Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). Biochem Biophys Res Commun 169, 1117-1121
    • (1990) Biochem Biophys Res Commun , vol.169 , pp. 1117-1121
    • Ueno, S.1    Uemichi, T.2    Takahashi, N.3    Soga, F.4    Yorifuji, S.5    Tarui, S.6
  • 7
    • 0028337764 scopus 로고
    • Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis
    • Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, Skinner M (1994.) Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. Clin Genet 45, 281-284
    • (1994) Clin Genet , vol.45 , pp. 281-284
    • Skare, J.1    Jones, L.A.2    Myles, N.3    Kane, K.4    Milunsky, A.5    Cohen, A.6    Skinner, M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.