Development and characterization of a hypomorphic Smith–Lemli–Opitz syndrome mouse model and efficacy of simvastatin therapy-Reference-Cited by-同舟云学术

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Development and characterization of a hypomorphic Smith–Lemli–Opitz syndrome mouse model and efficacy of simvastatin therapy

Published:2006-01-30 Issue:6 Volume:15 Page:839-851
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Correa-Cerro Lina S.,Wassif Christopher A.,Kratz Lisa,Miller Georgina F.,Munasinghe Jeeva P.,Grinberg Alexander,Fliesler Steven J.,Porter Forbes D.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/15/6/839/17243160/ddl003.pdf

Reference50 articles.

1. Porter, F.D. (2003) Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr. Opin. Pediatr., 15, 607–613.

2. Smith, D.W., Lemli, L. and Opitz, J.M. (1964) A newly recognized syndrome of multiple congenital anomalies. J. Pediatr., 64, 210–217.

3. Kelley, R.I. and Hennekam, R.C. (2000) The Smith–Lemli–Opitz syndrome. J. Med. Genet., 37, 321–335.

4. Porter, F.D. (2002) Malformation syndromes due to inborn errors of cholesterol synthesis. J. Clin. Invest., 110, 715–724.

5. Irons, M., Elias, E.R., Salen, G., Tint, G.S. and Batta, A.K. (1993) Defective cholesterol biosynthesis in Smith–Lemli–Opitz syndrome. Lancet, 341, 1414.

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