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1984 • 339 citations

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1992 • 319 citations

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1989 • 314 citations

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1986 • 163 citations

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A Point Mutation in an Intronic Branch Site Results in Aberrant Splicing of COL5A1 and in Ehlers-Danlos Syndrome Type II in Two British Families

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T→G or T→A mutation introduced in the branchpoint consensus sequence of intron 4 of lecithin:cholesterol acyltransferase (LCAT) gene: intron retention causing LCAT deficiency

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