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Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth.
PLoS One. 2009 Dec 29;4(12):e8481. doi: 10.1371/journal.pone.0008481.
PLoS One. 2009.
PMID: 20041163
Free PMC article.
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH.
Christiansen HE, et al.
Am J Hum Genet. 2010 Mar 12;86(3):389-98. doi: 10.1016/j.ajhg.2010.01.034. Epub 2010 Feb 25.
Am J Hum Genet. 2010.
PMID: 20188343
Free PMC article.
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