Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
- 12 March 2010
- journal article
- case report
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 86 (3), 389-398
- https://doi.org/10.1016/j.ajhg.2010.01.034
Abstract
No abstract availableKeywords
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