Journal of Medical Genetics · 1987 · 38 citations · 16 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsConnective Tissue DiseasesConnective Tissue DisordersGenetic DisordersGenetic SyndromesMendelian DisordersPedigree AnalysisCol1a1 MutationsCol1a2 MutationsConnective Tissue Gene MutationsGene Mapping In PedigreesGenetic Connective Tissue DisordersMarfan Syndrome GeneticsRestriction Fragment Length Polymorphism AnalysisRestriction Fragment Length Polymorphism Mapping
The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers.
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Individual-specific ‘fingerprints’ of human DNA
A.J. Jeffreys, Victoria Wilson, Swee Lay Thein · Nature · 1985 · 2.2K citations
Life Sciences, Biology, Genetics +7
Life Expectancy and Causes of Death in the Marfan Syndrome
J. Lamont Murdoch, Bryan A. Walker, Barry L. Halpern et al. · New England Journal of Medicine · 1972 · 764 citations
OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENES
Bryan Sykes, Donald Ogilvie, John Anderson et al. · The Lancet · 1986 · 446 citations