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Journal of Medical Genetics logoLink to Journal of Medical Genetics
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. 2005 Apr;42(4):350–357. doi: 10.1136/jmg.2004.022749

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

L Correa-Cerro, C Wassif, J Waye, P Krakowiak, D Cozma, N Dobson, S Levin, G Anadiotis, R Steiner, M Krajewska-Walasek, M Nowaczyk, F Porter
PMCID: PMC1736027  PMID: 15805162

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