메뉴 건너뛰기




Volumn 3, Issue 3, 1999, Pages 154-156

Recent advances in gene mapping of skin diseases. Pseudoxanthoma elasticum: A satisfying sibling study

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 16P; GENE LOCATION; GENE MAPPING; GENETIC LINKAGE; HUMAN; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; SIBLING;

EID: 0032903204     PISSN: 12034754     EISSN: None     Source Type: Journal    
DOI: 10.1177/120347549900300312     Document Type: Article
Times cited : (2)

References (13)
  • 1
    • 0026345962 scopus 로고
    • Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities
    • Bonifas JM, Rothman AL, Epstein EH. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 1991; 254:1202-1205.
    • (1991) Science , vol.254 , pp. 1202-1205
    • Bonifas, J.M.1    Rothman, A.L.2    Epstein, E.H.3
  • 2
    • 17444449599 scopus 로고
    • Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q
    • Compton JG, DiGiovanna JJ, Santucci SK, et al. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nature Genetics 1992; 1:301-305.
    • (1992) Nature Genetics , vol.1 , pp. 301-305
    • Compton, J.G.1    DiGiovanna, J.J.2    Santucci, S.K.3
  • 3
    • 0028028223 scopus 로고
    • Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q
    • Russell LJ, DiGiovanna JJ, Hashem N, et al. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet 1994; 55:1146-1152.
    • (1994) Am J Hum Genet , vol.55 , pp. 1146-1152
    • Russell, L.J.1    DiGiovanna, J.J.2    Hashem, N.3
  • 4
    • 15844386165 scopus 로고    scopus 로고
    • Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
    • Hahn H, Wicking C, Zaphiropoulos PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996; 85:841-851.
    • (1996) Cell , vol.85 , pp. 841-851
    • Hahn, H.1    Wicking, C.2    Zaphiropoulos, P.G.3
  • 5
    • 15844381336 scopus 로고    scopus 로고
    • Human homolog of patched, a candidate gene for the basal cell nevus syndrome
    • Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996; 272:1668-1671.
    • (1996) Science , vol.272 , pp. 1668-1671
    • Johnson, R.L.1    Rothman, A.L.2    Xie, J.3
  • 6
    • 0023744791 scopus 로고
    • Pseudoxanthoma elasticum
    • Neldner K. Pseudoxanthoma elasticum. Clin Dermatol 1988; 6:1-159.
    • (1988) Clin Dermatol , vol.6 , pp. 1-159
    • Neldner, K.1
  • 7
    • 0345191400 scopus 로고
    • Anton-Lamprecht I. Stromal aberrations
    • Papadimitriou JM, Henderson DW, Spagnolo DV, eds. Churchill Livingstone
    • Harvey JM, Anton-Lamprecht I. Stromal aberrations. In: Papadimitriou JM, Henderson DW, Spagnolo DV, eds. Diagnostic ultrastructure of non-neoplastic diseases. Churchill Livingstone, 1992:91-94.
    • (1992) Diagnostic Ultrastructure of Non-neoplastic Diseases , pp. 91-94
    • Harvey, J.M.1
  • 8
    • 0016501096 scopus 로고
    • Historical evidence for the generic heterogeneity of pseudoxanthoma elasticum
    • Pope FM. Historical evidence for the generic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol 1975; 92:493-509.
    • (1975) Br J Dermatol , vol.92 , pp. 493-509
    • Pope, F.M.1
  • 9
    • 44049123201 scopus 로고
    • Workshop on pseudoxanthoma elasticum: Molecular biology and pathology of the elastic fibers
    • Jefferson Medical College, Philadelphia, PA, June 10, 1992
    • Christiano AM, Lebwohl MD, Boyd CD, Uitto J. Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, PA, June 10, 1992. J Invest Dermatol 1992; 99:660-663.
    • (1992) J Invest Dermatol , vol.99 , pp. 660-663
    • Christiano, A.M.1    Lebwohl, M.D.2    Boyd, C.D.3    Uitto, J.4
  • 10
    • 0030730124 scopus 로고    scopus 로고
    • Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1
    • Struk B, Neldner KH, Rao VS, et al. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Molec Genet 1997; 6:1823-1828.
    • (1997) Hum Molec Genet , vol.6 , pp. 1823-1828
    • Struk, B.1    Neldner, K.H.2    Rao, V.S.3
  • 11
    • 1042271786 scopus 로고
    • Methods of linkage analysis
    • Ott J, ed. Baltimore, MD: Johns Hopkins University Press
    • Ott J. Methods of linkage analysis. In: Ott J, ed. Analysis of human genetic linkage. Baltimore, MD: Johns Hopkins University Press, 1992:78-79.
    • (1992) Analysis of Human Genetic Linkage , pp. 78-79
    • Ott, J.1
  • 12
    • 0030316960 scopus 로고    scopus 로고
    • When genetics gets under your skin
    • Bale SJ. When genetics gets under your skin. J Cutan Med Surg 1996; 1:97-100.
    • (1996) J Cutan Med Surg , vol.1 , pp. 97-100
    • Bale, S.J.1
  • 13
    • 0030964532 scopus 로고    scopus 로고
    • A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1
    • van Soest S, Swart J, Tijmes N, et al. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. Genome Res 1997; 7:830-834.
    • (1997) Genome Res , vol.7 , pp. 830-834
    • Van Soest, S.1    Swart, J.2    Tijmes, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.