메뉴 건너뛰기




Volumn 126, Issue 4, 2006, Pages 704-705

Pseudoxanthoma elasticum: The end of the autosomal dominant segregation myth

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CARDIOVASCULAR SYSTEM; CONNECTIVE TISSUE DISEASE; DNA POLYMORPHISM; ENVIRONMENTAL FACTOR; EYE; GENE MUTATION; HETEROZYGOSITY; HUMAN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; PUBLICATION; REVIEW; SKIN;

EID: 33645026944     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700129     Document Type: Note
Times cited : (18)

References (10)
  • 1
    • 28844498292 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: A clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
    • Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A (2005) Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 42:881-92
    • (2005) J Med Genet , vol.42 , pp. 881-892
    • Chassaing, N.1    Martin, L.2    Calvas, P.3    Le Bert, M.4    Hovnanian, A.5
  • 2
  • 3
  • 4
    • 24344480438 scopus 로고    scopus 로고
    • Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues
    • Klement JF, Matsuzaki Y, Jiang QJ, Terlizzi J, Choi HY, Fujimoto N et al. (2005) Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol 25:8299-310
    • (2005) Mol Cell Biol , vol.25 , pp. 8299-8310
    • Klement, J.F.1    Matsuzaki, Y.2    Jiang, Q.J.3    Terlizzi, J.4    Choi, H.Y.5    Fujimoto, N.6
  • 7
    • 2142765296 scopus 로고    scopus 로고
    • Does autosomal dominant pseudoxanthoma elasticum exist?
    • Plomp AS, Hu X, de Jong PT, Bergen AA (2004) Does autosomal dominant pseudoxanthoma elasticum exist? Am J Med Genet 126A:403-12
    • (2004) Am J Med Genet , vol.126 A , pp. 403-412
    • Plomp, A.S.1    Hu, X.2    De Jong, P.T.3    Bergen, A.A.4
  • 8
  • 9
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • Welsh MJ, Smith AE (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73:1251-4
    • (1993) Cell , vol.73 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2
  • 10
    • 0035012846 scopus 로고    scopus 로고
    • Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)
    • Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR (2001) Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet 108:346-55
    • (2001) Hum Genet , vol.108 , pp. 346-355
    • Yatsenko, A.N.1    Shroyer, N.F.2    Lewis, R.A.3    Lupski, J.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.