A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

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author: Christian Kubisch  Peter Nürnberg  Gudrun Nürnberg  Bernd Wollnik  Hulya Kayserili 

Publication date April 1, 2009
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