Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Author:

Becker Jutta,Semler Oliver,Gilissen Christian,Li Yun,Bolz Hanno Jörn,Giunta Cecilia,Bergmann Carsten,Rohrbach Marianne,Koerber Friederike,Zimmermann Katharina,de Vries Petra,Wirth Brunhilde,Schoenau Eckhard,Wollnik Bernd,Veltman Joris A.,Hoischen Alexander,Netzer Christian

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference60 articles.

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4. Perinatal lethal osteogenesis imperfecta (OI type II): A biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen;Byers;Am. J. Hum. Genet.,1988

5. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta;Chu;Nature,1983

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