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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A. Ramírez | Minrong Ai | H. Kayserili | M. Warman | G. Nürnberg | P. Nürnberg | B. Wollnik | F. Hanisch | C. Kubisch | J. Freudenberg | C. Bartels | S. Höning | C. Netzer | O. Uyguner | B. Chung | A. Uzümcü