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Volumn 32, Issue 2, 2005, Pages 223-225

A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy

Author keywords

Amyloid polyneuropathy; Late onset; Transthyretin; V32A mutation

Indexed keywords

ALANINE; PREALBUMIN; VALINE;

EID: 23044512559     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20331     Document Type: Article
Times cited : (11)

References (19)
  • 1
    • 0034935464 scopus 로고    scopus 로고
    • Hereditary and acquired amyloid neuropathies
    • Adams D. Hereditary and acquired amyloid neuropathies. J Neurol 2001;248:647-657.
    • (2001) J Neurol , vol.248 , pp. 647-657
    • Adams, D.1
  • 2
    • 77957180065 scopus 로고
    • A peculiar form of peripheral neuropathy: Familial atypical generalized amyloidosis with special involvement of the peripheral nerves
    • Andrade C. A peculiar form of peripheral neuropathy: familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952;75:408-427.
    • (1952) Brain , vol.75 , pp. 408-427
    • Andrade, C.1
  • 4
    • 0017824077 scopus 로고
    • Structure of prealbumin: Secondary, tertiary and quarternary interactions determined by Fourier refinement at 1.8 Å
    • Blake CCF, Geisow MJ, Oatley SJ. Structure of prealbumin: secondary, tertiary and quarternary 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
  • 5
    • 0030982188 scopus 로고    scopus 로고
    • Familial amyloidosis in one Chinese family: Clinical, immunological, and molecular genetic analysis
    • Chou CT, Lee CC, Chang DM, Buxbaum JN, Jacobson DR. Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis. J Intern Med 1997;241:327-331.
    • (1997) J Intern Med , vol.241 , pp. 327-331
    • Chou, C.T.1    Lee, C.C.2    Chang, D.M.3    Buxbaum, J.N.4    Jacobson, D.R.5
  • 6
    • 0002842219 scopus 로고    scopus 로고
    • Familial amyloidotic polyneuropathy
    • Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, editors. Boston: Butterworth-Heinemann
    • Herbert J. Familial amyloidotic polyneuropathy. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, editors. The molecular and genetic basis of neurological disease. Boston: Butterworth-Heinemann; 1997. p 845-864.
    • (1997) The Molecular and Genetic Basis of Neurological Disease , pp. 845-864
    • Herbert, J.1
  • 8
    • 0035957104 scopus 로고    scopus 로고
    • Transthyretin-associated neuropathic amyloidosis: Pathogenesis and treatment
    • Hund E, Linke RP, Willig F, Grau A. Transthyretin-associated neuropathic amyloidosis: pathogenesis and treatment. Neurology 2001;56:431-435.
    • (2001) Neurology , vol.56 , pp. 431-435
    • Hund, E.1    Linke, R.P.2    Willig, F.3    Grau, A.4
  • 9
    • 0037046222 scopus 로고    scopus 로고
    • Familial transthyretin-type amyloid polyneuropathy in Japan
    • Ikeda S, Nakazato M, Ando Y, Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan. Neurology 2002;58:1001-1007.
    • (2002) Neurology , vol.58 , pp. 1001-1007
    • Ikeda, S.1    Nakazato, M.2    Ando, Y.3    Sobue, G.4
  • 10
    • 0034241448 scopus 로고    scopus 로고
    • Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family
    • Lachmann HJ, Booth DR, Bybee A, Hawkins PN. Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family. Hum Mutat 2000;16:180.
    • (2000) Hum Mutat , vol.16 , pp. 180
    • Lachmann, H.J.1    Booth, D.R.2    Bybee, A.3    Hawkins, P.N.4
  • 11
    • 0035997528 scopus 로고    scopus 로고
    • Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis
    • Lim A, Prokaeva T, Connor LH, FaIk RH, Skinner M, Costello CE. Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. Amyloid 2002;9:134-140.
    • (2002) Amyloid , vol.9 , pp. 134-140
    • Lim, A.1    Prokaeva, T.2    Connor, L.H.3    Faik, R.H.4    Skinner, M.5    Costello, C.E.6
  • 12
    • 0037507293 scopus 로고    scopus 로고
    • Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred
    • Mak CM, Lam CW, Fan ST, Liu CL, Tam SC. Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred. Acta Neurol Scand 2003;107:419-422.
    • (2003) Acta Neurol Scand , vol.107 , pp. 419-422
    • Mak, C.M.1    Lam, C.W.2    Fan, S.T.3    Liu, C.L.4    Tam, S.C.5
  • 13
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 14
    • 0032863087 scopus 로고    scopus 로고
    • Late-onset familial amyloid polyneuropathy type 1 (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan
    • Misu K, Hattori N, Nagamatsu M, Ikeda S, Ando Y, Nakazato M, et al. Late-onset familial amyloid polyneuropathy type 1 (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Brain 1999;122:1951-1962.
    • (1999) Brain , vol.122 , pp. 1951-1962
    • Misu, K.1    Hattori, N.2    Nagamatsu, M.3    Ikeda, S.4    Ando, Y.5    Nakazato, M.6
  • 15
    • 0033793972 scopus 로고    scopus 로고
    • Transthyretin related familial amyloid polyneuropathy
    • Planté-Bordeneuve V, Said G. Transthyretin related familial amyloid polyneuropathy. Curr Opin Neurol 2000;13:569-573.
    • (2000) Curr Opin Neurol , vol.13 , pp. 569-573
    • Planté-Bordeneuve, V.1    Said, G.2
  • 16
    • 0035018450 scopus 로고    scopus 로고
    • Transthyretin mutations in hyperthyroxinemia and amyloid diseases
    • Saraiva MJM. Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat 2001;17:493-503.
    • (2001) Hum Mutat , vol.17 , pp. 493-503
    • Saraiva, M.J.M.1
  • 17
    • 23044470902 scopus 로고    scopus 로고
    • Hereditary transthyretin amyloidosis: Molecular basis and therapeutical strategies
    • May 14
    • Saraiva MJM. Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies. Exp Rev Mol Med May 14, 2002, http://www. expertreviews.org/02004647h.htm
    • (2002) Exp Rev Mol Med
    • Saraiva, M.J.M.1
  • 18
    • 0033428635 scopus 로고    scopus 로고
    • Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
    • Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, et al. Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid 1999;6:282-288.
    • (1999) Amyloid , vol.6 , pp. 282-288
    • Tachibana, N.1    Tokuda, T.2    Yoshida, K.3    Taketomi, T.4    Nakazato, M.5    Li, Y.F.6
  • 19
    • 33444458383 scopus 로고    scopus 로고
    • Boston University School of Medicine mass spectrometry resource
    • Transthyretin mutations. Retrieved December 8, 2004 from Boston University School of Medicine mass spectrometry resource, http://www.bumc.bu. edu/Dept/Content.aspx?DepartmentiD= 354&PageID=5530.
    • Transthyretin Mutations


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.