Concepedia

Molecular nosology of heritable disorders of connective tissue

Peter Beighton, A. De Paepe, Judith G. Hall, David W. Hollister, F M Pope, Reed E. Pyeritz, B Steinmann, Petros Tsipouras

American Journal of Medical Genetics · 1992 · 62 citations · 133 references

DOI

Concepts

References

133

Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

David F. Barker, Sirkka Liisa Hostikka, Jing Zhou et al. · Science · 1990 · 881 citations

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International nosology of heritable disorders of connective tissue, Berlin, 1986

Peter Beighton, A. De Paepe, D. M. Danks et al. · American Journal of Medical Genetics · 1988 · 733 citations

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A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

Stephen T. Reeders, M.H. Breuning, Kay E. Davies et al. · Nature · 1985 · 707 citations

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Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

Brendan Lee, Maurice Godfrey, Emilia Vitale et al. · Nature · 1991 · 675 citations

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OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENES

Bryan Sykes, Donald Ogilvie, John Anderson et al. · The Lancet · 1986 · 446 citations

, , +12