DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome-Reference-Cited by-同舟云学术

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

Published:2013-05-30 Issue:6 Volume:29 Page:971-977
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Savige Judy, ,Ars Elisabet,Cotton Richard G. H.,Crockett David,Dagher Hayat,Deltas Constantinos,Ding Jie,Flinter Frances,Pont-Kingdon Genevieve,Smaoui Nizar,Torra Roser,Storey Helen

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-013-2486-8.pdf

Reference43 articles.

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2. Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Grunfeld JP (1985) Genetic heterogeneity of Alport syndrome. Kidney Int 27:672–677

3. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224–1227

4. Flinter FA, Cameron JS, Chantler C, Houston I, Bobrow M (1988) Genetics of classic Alport’s syndrome. Lancet 2:1005–1007

5. Gubler M, Levy M, Broyer M, Naizot C, Gonzales G, Perrin D, Habib R (1981) Alport’s syndrome. A report of 58 cases and a review of the literature. Am J Med 70:493–505

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