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Volumn 91, Issue 2, 2000, Pages 138-140

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

Author keywords

7 dehydrocholesterol reductase; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; OXIDOREDUCTASE;

EID: 0034098984     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000313)91:2<138::AID-AJMG12>3.0.CO;2-Q     Document Type: Article
Times cited : (18)

References (12)
  • 2
    • 0344301951 scopus 로고    scopus 로고
    • Cholesterol metabolism and embryogenesis
    • Farese RV Jr, Herz J. 1998. Cholesterol metabolism and embryogenesis. Trends Genet 14:115-120.
    • (1998) Trends Genet , vol.14 , pp. 115-120
    • Farese R.V., Jr.1    Herz, J.2
  • 5
    • 0031053389 scopus 로고    scopus 로고
    • Cholesterol, hedgehog, and embryogenesis
    • Herz J, Willnow TE, Farese RV Jr. 1997. Cholesterol, hedgehog, and embryogenesis. Nat Genet 15:123-124.
    • (1997) Nat Genet , vol.15 , pp. 123-124
    • Herz, J.1    Willnow, T.E.2    Farese R.V., Jr.3
  • 8
    • 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. Pediat 64:210-217.
    • (1964) J. Pediat , vol.64 , pp. 210-217
    • Smith, D.W.1    Lemli, L.2    Opitz, J.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.