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Volumn 40, Issue 12, 2002, Pages 1262-1265

Laboratory assessment of transthyretin amyloidosis

Author keywords

Amyloidosis; DNA assays; Inherited disease; Protein analysis; Transthyretin

Indexed keywords

DNA; NUCLEOTIDE; PREALBUMIN; PROTEIN; RIBONUCLEASE; VALINE;

EID: 0036915054     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.2002.218     Document Type: Review
Times cited : (17)

References (15)
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    • International nomenclature committee on amyloidosis
    • International nomenclature committee on amyloidosis. Nomenclature of the amyloid fibril proteins. Amyloid 1999; 6:63-6.
    • (1999) Amyloid , vol.6 , pp. 63-66
  • 2
    • 1842527698 scopus 로고    scopus 로고
    • Review-transthyretin amyloidosis
    • Benson MD, Uemichi T. Review-transthyretin amyloidosis. Amyloid 1996; 3:44-56.
    • (1996) Amyloid , vol.3 , pp. 44-56
    • Benson, M.D.1    Uemichi, T.2
  • 3
    • 0014444934 scopus 로고
    • Inherited predisposition to generalized amyloidosis
    • Van Allen MW, Frohlich JA, Davis JR. Inherited predisposition to generalized amyloidosis. Neurology 1969; 19:10-25.
    • (1969) Neurology , vol.19 , pp. 10-25
    • Van Allen, M.W.1    Frohlich, J.A.2    Davis, J.R.3
  • 4
    • 0035868431 scopus 로고    scopus 로고
    • A new hereditary amyloidosis: The result of a stop-codon mutation in the apoliprotein II gene
    • Benson MD, Liepnieks JJ, Yasaki M, Yamashita T, Hamidi Asl K, Guenther B, et al. A new hereditary amyloidosis: the result of a stop-codon mutation in the apoliprotein II gene. Genomics 2001; 72:272-7.
    • (2001) Genomics , vol.72 , pp. 272-277
    • Benson, M.D.1    Liepnieks, J.J.2    Yasaki, M.3    Yamashita, T.4    Hamidi Asl, K.5    Guenther, B.6
  • 6
    • 0014640130 scopus 로고
    • Familial systemic paramyloidosis with lattice dystrophy of cornea, progressive cranial neuropathy, skin changes and various internal symptoms
    • Merotja J. Familial systemic paramyloidosis with lattice dystrophy of cornea, progressive cranial neuropathy, skin changes and various internal symptoms. Ann Clin Res 1969; 1:314-24.
    • (1969) Ann. Clin. Res. , vol.1 , pp. 314-324
    • Merotja, J.1
  • 9
    • 0010551538 scopus 로고
    • Amyloid fibril protein related to prealbumin in familial amyloidotic neuropathy
    • Costa PP, Figuera AS, Bravo FR. Amyloid fibril protein related to prealbumin in familial amyloidotic neuropathy. Proc Natl Acad Sci USA 1978; 75:4499-503.
    • (1978) Proc. Natl. Acad. Sci. USA , vol.75 , pp. 4499-4503
    • Costa, P.P.1    Figuera, A.S.2    Bravo, F.R.3
  • 10
    • 0034032166 scopus 로고    scopus 로고
    • Sequence communication. Tabulation of transthyretin (TTR) variants as of 1/1/2000
    • Connors LH, Richardson AM, Theberge R, Costello CE. Sequence communication. Tabulation of transthyretin (TTR) variants as of 1/1/2000. Amyloid 2000; 7:54-69.
    • (2000) Amyloid , vol.7 , pp. 54-69
    • Connors, L.H.1    Richardson, A.M.2    Theberge, R.3    Costello, C.E.4
  • 11
    • 0012134116 scopus 로고
    • Tranthyretin Ser 6 gene frequency in individuals without amyloidosis
    • Kisilevsky R, Benson MD, Frangione B, Gauldie J, Muckle TJ, Young ID, editors. New York: Parthenon Publishing, 1993
    • Jacobson DR, Alves I, Saraiva MJ, Buxbaum JN. Tranthyretin Ser 6 gene frequency in individuals without amyloidosis. In: Kisilevsky R, Benson MD, Frangione B, Gauldie J, Muckle TJ, Young ID, editors. Amyloid and amyloidosis 1993. New York: Parthenon Publishing, 1993:428-30.
    • (1993) Amyloid and Amyloidosis , pp. 428-430
    • Jacobson, D.R.1    Alves, I.2    Saraiva, M.J.3    Buxbaum, J.N.4
  • 13
    • 84988101451 scopus 로고
    • Separation by hybrid isoelectric focusing of normal human transthyretin (prealbumin) and a variant with a methionine for valine substitution associated with familial amyloidotic polyneuropathy
    • Altland K, Banzhoff A. Separation by hybrid isoelectric focusing of normal human transthyretin (prealbumin) and a variant with a methionine for valine substitution associated with familial amyloidotic polyneuropathy. Electrophoresis 1986; 7:529-33.
    • (1986) Electrophoresis , vol.7 , pp. 529-533
    • Altland, K.1    Banzhoff, A.2
  • 14
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    • A new transthyretin variant (His69) associated with vitreous amyloidosis in an FAP family
    • Zeldenrust SR, Skinner M, Harding J, Skare J, Benson MD. A new transthyretin variant (His69) associated with vitreous amyloidosis in an FAP family. Amyloid 1994; 1:17-22.
    • (1994) Amyloid , vol.1 , pp. 17-22
    • Zeldenrust, S.R.1    Skinner, M.2    Harding, J.3    Skare, J.4    Benson, M.D.5
  • 15
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    • Amyloid polyneuropathy in two German-American families: A new transthyretin variant (Val107)
    • Uemichi T, Gertz MA, Benson MD. Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val107). J Med Genet 1994; 31:416-7.
    • (1994) J. Med. Genet. , vol.31 , pp. 416-417
    • Uemichi, T.1    Gertz, M.A.2    Benson, M.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.