Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy-Reference-Cited by-同舟云学术

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy

Published:2012-09-11 Issue:2 Volume:28 Page:339-343
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Rodriguez Patricia Q.,Lohkamp Bernhard,Celsi Gianni,Mache Christoph Johannes,Auer-Grumbach Michaela,Wernerson Annika,Hamajima Nobuyuki,Tryggvason Karl,Patrakka Jaakko

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-012-2299-1.pdf

Reference12 articles.

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2. Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR (2010) Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nature Genet 42:72–76

3. Boyer O, Benoit G, Gribouval O, Nevo F, Tete MJ, Dantal J, Gilbert-Dussardier B, Touchard G, Karras A, Presne C, Grunfeld JP, Legendre C, Joly D, Rieu P, Mohsin N, Hannedouche T, Moal V, Gubler MC, Broutin I, Mollet G, Antignac C (2011) Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol 22:239–245

4. Gbadegesin RA, Lavin PJ, Hall G, Bartkowiak B, Homstad A, Jiang R, Wu G, Bryd A, Lynn K, Wolfish N, Ottati C, Stevens P, Howell D, Conlon P, Winn MP (2011) Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. Kidney Int 81:94–99

5. Lee HK, Han KH, Jung YH, Kang HG, Moon KC, Ha IS, Choi Y, Cheong HI (2011) Variable renal phenotype in a family with an INF2 mutation. Pediatr Nephrol 26(1):73–76

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