Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2-Reference-Cited by-同舟云学术

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2

Published:2010-12-14 Issue:5 Volume:26 Page:717-724
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Uliana Vera,Marcocci Elena,Mucciolo Mafalda,Meloni Ilaria,Izzi Claudia,Manno Carlo,Bruttini Mirella,Mari Francesca,Scolari Francesco,Renieri Alessandra,Salviati Leonardo

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-010-1693-9.pdf

Reference25 articles.

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4. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2003) X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol 14:2603–2610

5. Thielen BK, Barker DF, Nelson RD, Zhou J, Kren SM, Segal Y (2003) Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth. Hum Mutat 22:419

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