Mutations in the 3 beta-hydroxysterol Delta(24)-reductase gene cause desmosterolosis, an autosomal recessive disorder of

Autor:	Waterham, H.R., Koster, J., Romeijn, G.J., Hennekam, R.C.M., Vreken, P., Andersson, H.C., Fitzpatrick, D.R., Kelley, R.I., Wanders, R.J.A.
Přispěvatelé:	Faculteit der Geneeskunde
Rok vydání:	2001
Zdroj:	American Journal of Human Genetics, 69, 685-694. Cell Press
ISSN:	0002-9297
Databáze:	OpenAIRE
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