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BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
Funari, Vincent A; Krakow, Deborah; Nevarez, Lisette; Chen, Zugen; Funari, Tara L; Vatanavicharn, Nithiwat; Wilcox, William R; Rimoin, David L; Nelson, Stanley F; Cohn, Daniel H.
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  • Funari VA; Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA. vincent.funari@cshs.org
Am J Hum Genet ; 87(4): 532-7, 2010 Oct 08.
Article in En | MEDLINE | ID: mdl-20869035
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spine / Spondylolysis / Signal Transduction / Consanguinity / Dysostoses / Bone Morphogenetic Protein 2 Limits: Animals / Humans Language: En Journal: Am J Hum Genet Year: 2010 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spine / Spondylolysis / Signal Transduction / Consanguinity / Dysostoses / Bone Morphogenetic Protein 2 Limits: Animals / Humans Language: En Journal: Am J Hum Genet Year: 2010 Type: Article Affiliation country: United States