Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease-Reference-Cited by-同舟云学术

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

Published:2015-03-05 Issue:9 Volume:30 Page:1459-1465
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Lennon Rachel,Stuart Helen M.,Bierzynska Agnieszka,Randles Michael J.,Kerr Bronwyn,Hillman Katherine A.,Batra Gauri,Campbell Joanna,Storey Helen,Flinter Frances A.,Koziell Ania,Welsh Gavin I.,Saleem Moin A.,Webb Nicholas J. A.,Woolf Adrian S.

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/article/10.1007/s00467-015-3067-9/fulltext.html

Reference36 articles.

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4. Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schröder CH, Smeets HJ, Reeders ST (1994) Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 8:77–81

5. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, 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

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