Concepedia

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

Corinne Antignac, Jing Zhou, Marek Sanak, Pierre Cochat, Bernard Roussel, Georges Deschênes, Françoise Gros, Bertrand Knebelmann, M. C. Hors‐Cayla, Karl Tryggvason,

Kidney International · 1992 · 99 citations · 25 references

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25

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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HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS

A. Cecil Alport · BMJ · 1927 · 666 citations · Full text

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Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.

Sirkka Liisa Hostikka, Roger L. Eddy, M.G. Byers et al. · Proceedings of the National Academy of Sciences · 1990 · 387 citations

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Alport's syndrome

Marie-Claire Gübler, Micheline Lévy, M. Broyer et al. · The American Journal of Medicine · 1981 · 299 citations

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes.

Annals of Internal Medicine · 1991 · 160 citations

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