Kidney Int.
X-linked Alport syndrome with "empty capsule sign".
Kudose S, Batal I, D'Alessandri-Silva C, Lin F, D'Agati VD, Markowitz GS
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Source: PubMed
Int J Clin Exp Pathol
A novel mutation in a Chinese family with autosomal recessive Alport syndrome: a case report.
Sun H, Yu X, Li S, Xu H, Yang J, Yi T, Han P, Shao M
Alport syndrome (AS) is a familial hereditary nephropathy which is characterized by molecular abnormalities in Collagen IV a345. As more gene mutation ...
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Source: PubMed
Nephrology (Carlton) 2020 Jan 10
Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome.
Girimaji N, Murugan Sm S, Nada R, Sharma A, Rathi M, Kohli HS, Gupta KL, Ramachandran R
Alport syndrome (AS) is an inherited disorder of basement membranes caused by mutations affecting specific proteins of the type IV collagen family, pr ...
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Source: PubMed
Zhejiang Da Xue Xue Bao Yi Xue Ban
[Analysis of Alport syndrome induced by type IV collagen alpha 5 gene mutation in two families].
Ye Q, Zhang Y, Wang J, Mao J
To investigate genetic characteristics of Alport syndrome. ...
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Source: PubMed
Transplantation 2019 Dec 31
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Reevaluate Living-donor Kidney Transplantation.
Pinto AM, Daga S, Fallerini C, Bruttini M, Baldassarri M, Giliberti A, Frullanti E, Guarnieri A, Garosi G, Renieri A
Alport syndrome (AS) is a hereditary nephropathy caused by mutations in collagen IV genes and characterized by ultrastructural lesions of the glomerul ...
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Source: PubMed
