A mutation in the signal sequence of LRP5 in a family with...

Human Mutation 2009 Vol. 30; Iss. 4

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

Boi-Dinh Chung, Hülya Kayserili, Minrong Ai, Jan Freudenberg, Abdullah Üzümcü, Oya Uyguner, Cynthia F. Bartels, Stefan Höning, Alfredo Ramirez, Franz-Georg Hanisch, Gudrun Nürnberg, Peter Nürnberg, Ma
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Volume:
30
Year:
2009
Language:
english
Pages:
8
DOI:
10.1002/humu.20916
File:
PDF, 375 KB
english, 2009
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