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Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1
Andreas Zankl, Bernhard Zabel, Katja Hilbert, Gabi Wildhardt, Segoleine Cuenot, Belinda Xavier, Russia Ha-Vinh, Luisa Bonafé, Jürgen Spranger, Andrea Superti-FurgaVolume:
129A
Year:
2004
Language:
english
Pages:
5
DOI:
10.1002/ajmg.a.30222
File:
PDF, 144 KB
english, 2004