Una nueva variante del gen col4a4 (c.1856>a): De un caso de gloméruloesclerosis focal y segmentaria a una familia con síndrome de alport

Alport syndrome, also known as hereditary nephritis, is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. It is caused by mutations in genes encoding several members of type IV colagen proteins primarily found in ba...

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Veröffentlicht in:	Revista de nefrología, diálisis y transplante diálisis y transplante, 2019, Vol.39 (2), p.120-125
Hauptverfasser:	Karadeniz, Tugba, Kirbiyik, Ozgur, Sarikaya, Turker, Ersan, Sibel, Saka Guvenc, Merve
Format:	Artikel
Sprache:	spa
Schlagworte:	Alport syndrome COL4A4 mutations focal segmental glomerulosclerosis glomeruloesclerosis focal segmentaria mutaciones COL4A4 síndrome de Alport
Online-Zugang:	Volltext
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