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Volumn 103, Issue 6, 1998, Pages 681-685

Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOIMMUNE DISEASE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 21Q; CLINICAL ARTICLE; DELETION MUTANT; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; MALE; MULTIPLE ENDOCRINE ADENOMATOSIS; NONSENSE MUTATION; PRIORITY JOURNAL;

EID: 0032421986     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050891     Document Type: Article
Times cited : (124)

References (10)
  • 1
    • 0028064998 scopus 로고
    • An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type 1 assigned to chromosome 21
    • Aaltonen J, Bjorses P, Sandkuijl L, Perheentupa J, Peltonen L (1994) An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type 1 assigned to chromosome 21. Nat Genet 8:83
    • (1994) Nat Genet , vol.8 , pp. 83
    • Aaltonen, J.1    Bjorses, P.2    Sandkuijl, L.3    Perheentupa, J.4    Peltonen, L.5
  • 2
    • 0025295238 scopus 로고
    • Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
    • Ahonen P, Myllarniemi S, Sipila I, Perheentupa J (1990) Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 322:1829-1836
    • (1990) N Engl J Med , vol.322 , pp. 1829-1836
    • Ahonen, P.1    Myllarniemi, S.2    Sipila, I.3    Perheentupa, J.4
  • 3
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
    • Finnish-German APECED Consortium (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 17:399-403
    • (1997) Nat Genet , vol.17 , pp. 399-403
  • 7
    • 0019811879 scopus 로고
    • Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes
    • Neufeld M, Maclaren NK, Blizzard RM (1981) Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine 60:355-362
    • (1981) Medicine , vol.60 , pp. 355-362
    • Neufeld, M.1    Maclaren, N.K.2    Blizzard, R.M.3
  • 8
    • 0002739198 scopus 로고
    • Diseases of Finland and Scandinavia
    • Rothschild HR (ed) Academic press, New York
    • Norio R (1981) Diseases of Finland and Scandinavia. In: Rothschild HR (ed) Biocultural aspects of diseases. Academic press, New York, pp 359-415
    • (1981) Biocultural Aspects of Diseases , pp. 359-415
    • Norio, R.1
  • 10
    • 0026481974 scopus 로고
    • Polyglandular autoimmune syndrome type I among Iranian Jews
    • Zlotogora J, Shapiro MS (1992) Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 29:824-826
    • (1992) J Med Genet , vol.29 , pp. 824-826
    • Zlotogora, J.1    Shapiro, M.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.