Harvard Catalyst Profiles

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Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.

Wilkin DJ, Liberfarb R, Davis J, Levy HP, Cole WG, Francomano CA, Cohn DH. Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. Am J Med Genet. 2000 Sep 11; 94(2):141-8.

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.