Key result
Genetic segregation analysis in three pedigrees showed discordance between familial mitral valve prolapse and markers for collagen I and III genes, evidencing against linkage to these mutations.
Why the study?
Is familial mitral valve prolapse linked to mutations in genes encoding major fibrillar collagens?
Observational
Is familial mitral valve prolapse linked to mutations in genes encoding major fibrillar collagens?
Familial mitral valve prolapse is likely not generally caused by mutations in the genes encoding the major fibrillar collagens (collagens I and III).
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No linkage to collagen I/III genes in familial mitral valve prolapse; leaves open other genetic loci for mapping.
Wordsworth et al. (1989) conducted an observational in Familial mitral valve prolapse. Genetic markers for collagens I and III was evaluated on Linkage between disease segregation and collagen gene markers. Genetic segregation analysis in three pedigrees showed discordance between familial mitral valve prolapse and markers for collagen I and III genes, evidencing against linkage to these mutations.
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