A mutation in the signal sequence of LRP
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Boi-Dinh Chung; Hülya Kayserili; Minrong Ai; Jan Freudenberg; Abdullah Üzümcü; O
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Article
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2009
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John Wiley and Sons
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English
⚖ 375 KB
👁 2 views
We extend the spectrum of phenotypes caused by mutations in the Wnt/Norrin coreceptor low-density lipoprotein receptor-related protein 5 (LRP5) by identifying two novel types of mutation in related individuals whose presenting features were profound muscle hypotonia, mild mental retardation, blindne