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Volumn 53, Issue 3, 1999, Pages 637-639

An aggressive familial amyloidotic polyneuropathy caused by a new variant transthyretin Lys 54

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMYLOID NEUROPATHY; ARTICLE; CASE REPORT; CODON; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0033546625     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.3.637     Document Type: Article
Times cited : (22)

References (10)
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  • 3
    • 0030760818 scopus 로고    scopus 로고
    • A trinucleotide deletion in the transthyretin gene (ΔV122) in a kindred with familial amyloidotic polyneuropathy
    • Uemichi T, Liepnieks JJ, Benson MD. A trinucleotide deletion in the transthyretin gene (ΔV122) in a kindred with familial amyloidotic polyneuropathy. Neurology 1997;48: 1667-1670.
    • (1997) Neurology , vol.48 , pp. 1667-1670
    • Uemichi, T.1    Liepnieks, J.J.2    Benson, M.D.3
  • 4
    • 0026612659 scopus 로고
    • 55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement
    • 55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. Hum Genet 1992;89:353-356.
    • (1992) Hum Genet , vol.89 , pp. 353-356
    • Jacobson, D.R.1    McFarlin, D.E.2    Kane, I.3    Buxbaum, J.N.4
  • 5
    • 0030762751 scopus 로고    scopus 로고
    • Scan findings of various myocardial SPECT agents in a case of amyloid polyneuropathy with suspected myocardial involvement
    • Arbab AS, Koizumi K, Toyama K, Arai T, Yoshitomi T, Araki T. Scan findings of various myocardial SPECT agents in a case of amyloid polyneuropathy with suspected myocardial involvement. Ann Nucl Med 1997;11:139-141.
    • (1997) Ann Nucl Med , vol.11 , pp. 139-141
    • Arbab, A.S.1    Koizumi, K.2    Toyama, K.3    Arai, T.4    Yoshitomi, T.5    Araki, T.6
  • 6
    • 0026598860 scopus 로고
    • A novel transthyretin mutation associated with familial amyloidotic polyneuropathy
    • Murakami T, Maeda S, Yi S, et al. A novel transthyretin mutation associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun 1992;182:520-526.
    • (1992) Biochem Biophys Res Commun , vol.182 , pp. 520-526
    • Murakami, T.1    Maeda, S.2    Yi, S.3
  • 8
    • 0029095429 scopus 로고
    • Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy
    • Reilly MM, Adams D, Booth DR, et al. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 1995;118:849-856.
    • (1995) Brain , vol.118 , pp. 849-856
    • Reilly, M.M.1    Adams, D.2    Booth, D.R.3
  • 9
    • 0017824077 scopus 로고
    • Structure of prealbumin: Secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 Å
    • Blake CCF, Geisow MJ, Oatley SJ. Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 Å. J Mol Biol 1978;121: 339-356.
    • (1978) J Mol Biol , vol.121 , pp. 339-356
    • Blake, C.C.F.1    Geisow, M.J.2    Oatley, S.J.3
  • 10
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    • Transthyretin quaternary and tertiary structural changes facilitate misassembly into amyloid
    • Kelly JW Colon W, Lai Z, et al. Transthyretin quaternary and tertiary structural changes facilitate misassembly into amyloid. Adv Protein Chem 1997;50:161-181.
    • (1997) Adv Protein Chem , vol.50 , pp. 161-181
    • Kelly, J.W.1    Colon, W.2    Lai, Z.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.