High Proportion of Mutant Osteoblasts Is Compatible with Normal Skeletal Function in Mosaic Carriers of Osteogenesis Imperfecta**Presented as a platform presentation at the National Meeting of the American Society of Bone and Mineral Research (Late-Breaking Research Session), San Antonio, TX, September 2002.

Author:

Cabral Wayne A.,Marini Joan C.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference36 articles.

1. Osteogenesis imperfecta;Byers,2002

2. 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

3. Osteogenesis imperfecta: translation of mutation to phenotype;Byers;J Med Genet,1991

4. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction;Chomczynski;Anal Biochem,1987

5. Intrafamilial variable expressivity of osteogenesis imperfecta due to mosaicism for lethal G382R substitution in the COL1A1 gene;Cohen-Solal;Mol Cell Probes,1996

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