Chemical cleavage method for the detection of RNA base changes: Experience in the application to collagen mutations in osteogenesis imperfecta
Author:
Publisher
Wiley
Subject
Genetics (clinical)
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1. Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss;Journal of Medical Genetics;2013-08-06
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3. Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis;Journal of Medical Genetics;2006-08-01
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