메뉴 건너뛰기




Volumn 23, Issue 4, 2000, Pages 409-412

Smith-Lemli-Opitz syndrome: Molecular-genetic analysis of ten families

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; COMPLEMENTARY DNA; OXIDOREDUCTASE;

EID: 0034081440     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005616321794     Document Type: Conference Paper
Times cited : (16)

References (7)
  • 1
    • 0032493196 scopus 로고    scopus 로고
    • Mutations in the delta-7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
    • Fitzky BU, Witsch-Baumgartner M, Erdel M, et al (1998) Mutations in the delta-7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA 95: 8181-8186.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 8181-8186
    • Fitzky, B.U.1    Witsch-Baumgartner, M.2    Erdel, M.3
  • 2
    • 0030727361 scopus 로고    scopus 로고
    • Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from Czech Republic: Identification of four novel mutations
    • Kozák L, Blažková M, Kuhrová V, Pijáčková A, Růžičková Š, Št'astná S (1997) Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from Czech Republic: identification of four novel mutations. J Med Genet 34: 893-898.
    • (1997) J Med Genet , vol.34 , pp. 893-898
    • Kozák, L.1    Blažková, M.2    Kuhrová, V.3    Pijáčková, A.4    Růžičková, Š.5    Št'astná, S.6
  • 4
    • 0000139419 scopus 로고
    • A newly recognized syndrome of multiple congenital anomalies
    • Smith DW, Lemli L, Opitz JM (1964) A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64: 210-217.
    • (1964) J Pediatr , vol.64 , pp. 210-217
    • Smith, D.W.1    Lemli, L.2    Opitz, J.M.3
  • 5
    • 0000727177 scopus 로고
    • Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
    • Tint GS, Irons M, Elias ER, et al (1994) Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330: 107-113.
    • (1994) N Engl J Med , vol.330 , pp. 107-113
    • Tint, G.S.1    Irons, M.2    Elias, E.R.3
  • 6
    • 0032231459 scopus 로고    scopus 로고
    • Mutations in the human sterol delta-7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
    • Wassif CA, Maslen C, Kachilele-Linjewile S, et al (1998) Mutations in the human sterol delta-7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63: 55-62.
    • (1998) Am J Hum Genet , vol.63 , pp. 55-62
    • Wassif, C.A.1    Maslen, C.2    Kachilele-Linjewile, S.3
  • 7
    • 0032231706 scopus 로고    scopus 로고
    • Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
    • Waterham HR, Wijburg FA, Hennekam RCM, et al (1998) Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet 63: 329-338.
    • (1998) Am J Hum Genet , vol.63 , pp. 329-338
    • Waterham, H.R.1    Wijburg, F.A.2    Hennekam, R.C.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.