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Volumn 5, Issue 1, 1998, Pages 30-34

Transthyretin mutation (serine 84) associated with Familial Amyloid Polyneuropathy in a Hungarian family

Author keywords

Familial amyloid polyneuropathy; Transthyretin; TTR gene mutation

Indexed keywords

AMYLOID; PREALBUMIN;

EID: 0032013091     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.3109/13506129809007287     Document Type: Article
Times cited : (16)

References (12)
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    • Benson MD (1995). Amyloidosis. In The Metabolic and Molecular Bases of Inherited Disease, Seventh Edition, Volume III, Chapter 139, Part 18 Connective Tissues, pp. 4159-4191. Ed. by C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, McGraw Hill Book Co., New York, NY
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, Seventh Edition , vol.3 , Issue.18 PART , pp. 4159-4191
    • Benson, M.D.1
  • 3
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    • DNA banking: The effects of storage of blood and isolated DNA on the integrity of DNA
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    • (1987) Am J Med Genet , vol.27 , pp. 379-390
    • Madisen, L.1    Hoar, D.I.2    Holroyd, C.D.3    Crisp, M.4    Hodes, M.E.5
  • 4
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T and Hayashi K (1989). Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics, 5, 874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 5
    • 0025174736 scopus 로고
    • Hereditary amyloidosis: Detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences
    • Nichols WC and Benson MD (1990). Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet, 37, 44-53
    • (1990) Clin Genet , vol.37 , pp. 44-53
    • Nichols, W.C.1    Benson, M.D.2
  • 6
    • 0027050042 scopus 로고
    • A new mutant transthyretin (Arg10) associated with familial amyloid polyneuropathy
    • Uemichi T, Murrell JR, Zeldenrust S and Benson MD (1992). A new mutant transthyretin (Arg10) associated with familial amyloid polyneuropathy. J Med Genet, 29, 888-891
    • (1992) J Med Genet , vol.29 , pp. 888-891
    • Uemichi, T.1    Murrell, J.R.2    Zeldenrust, S.3    Benson, M.D.4
  • 7
    • 0024745055 scopus 로고
    • Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification
    • Nichols WC, Liepnieks JJ, McKusick VA and Benson MD (1989). Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. Genomics, 5, 535-540
    • (1989) Genomics , vol.5 , pp. 535-540
    • Nichols, W.C.1    Liepnieks, J.J.2    McKusick, V.A.3    Benson, M.D.4
  • 8
    • 0028797772 scopus 로고
    • Haplotype analysis of the transthyretin gene: Evidence for multiple recurrence of the Met30 mutation in the Caucasian population
    • Waits RP, Uemichi T and Benson MD (1995). Haplotype analysis of the transthyretin gene: evidence for multiple recurrence of the Met30 mutation in the Caucasian population. Amyloid Int J Exp Clin Invest, 2, 114-118
    • (1995) Amyloid Int J Exp Clin Invest , vol.2 , pp. 114-118
    • Waits, R.P.1    Uemichi, T.2    Benson, M.D.3
  • 9
    • 0024538761 scopus 로고
    • Haplotype analysis of familial amyloidotic polyneuropathy: Evidence for multiple origins of the Val-Met mutation most common to the disease
    • Yoshioka K, Furuya H, Sasaki H, Saraiva MJM, Costa PP, and Sakaki Y (1989). Haplotype analysis of familial amyloidotic polyneuropathy: evidence for multiple origins of the Val-Met mutation most common to the disease. Hum Genet, 82, 9-13
    • (1989) Hum Genet , vol.82 , pp. 9-13
    • Yoshioka, K.1    Furuya, H.2    Sasaki, H.3    Saraiva, M.J.M.4    Costa, P.P.5    Sakaki, Y.6
  • 10
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    • Ocular amyloidosis: Clinical points learned from one case
    • Bene C and Kranias G (1990). Ocular amyloidosis: clinical points learned from one case. Ann Opthalmol, 22, 101-102
    • (1990) Ann Opthalmol , vol.22 , pp. 101-102
    • Bene, C.1    Kranias, G.2
  • 11
    • 0023178853 scopus 로고
    • Amylose oculaire
    • Dhermy P (1987). Amylose oculaire. J Fr Ophtal, 9, 91-103
    • (1987) J Fr Ophtal , vol.9 , pp. 91-103
    • Dhermy, P.1
  • 12
    • 0021922647 scopus 로고
    • Identification of carriers of a variant plasma prealbumin (transthyretin) associated with familial amyloidotic polyneuropathy
    • Benson MD and Dwulet FE (1985). Identification of carriers of a variant plasma prealbumin (transthyretin) associated with familial amyloidotic polyneuropathy. J Clin Invest, 75, 71-75
    • (1985) J Clin Invest , vol.75 , pp. 71-75
    • Benson, M.D.1    Dwulet, F.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.