Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://link.springer.com/content/pdf/10.1186/s12882-017-0735-y.pdf
Reference36 articles.
1. Kashtan CE, Michael AF. Alport syndrome. Kidney Int. 1996;50(5):1445–63.
2. Gretz N, Broyer M, Brunner FP, Brynger H, Donckerwolcke RA, Jacobs C, et al. Alport’s syndrome as a cause of renal failure in Europe. Pediatr Nephrol. 1987;1(3):411–5.
3. Levy M, Feingold J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int. 2000;58(3):925–43.
4. Gunwar S, Ballester F, Noelken ME, Sado Y, Ninomiya Y, Hudson BG. Glomerular basement membrane: identification of a novel disulfide-cross-linked network of alpha3, alpha4, and alpha5 chains of type IV collagen and its implications for the pathogenesis of Alport syndrome. J Biol Chem. 1998;273(15):8767–75.
5. Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, et al. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. Nephrol Dial Transplant. 2006;21(3):665–71.
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1. New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3;Journal of Clinical Medicine;2022-08-19
2. Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population;Bosnian Journal of Basic Medical Sciences;2022-07-19
3. Identification of Four Novel COL4A5 Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families;Frontiers in Genetics;2022-03-17
4. Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome;Genes;2021-06-05
5. A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome;Matrix Biology Plus;2021-02
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