Novel mutation in the Delta 7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome

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Autoria(s): Evans, T; Poh, A; Webb, C; Wainwright, B; Wicking, C; Glass, I; Carey, WF; Fietz, M

Data(s)	01/01/2001
Identificador	http://espace.library.uq.edu.au/view/UQ:61031
Idioma(s)	eng
Publicador	Wiley-liss inc
Palavras-Chave	#Genetics & Heredity #Sonic-hedgehog #Delta-7-sterol Reductase #Cholesterol-biosynthesis #Homeostasis #Metabolism #Spectrum #Rat #C1 #270205 Genetic Development (incl. Sex Determination) #780105 Biological sciences
Tipo	Journal Article