Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome

Koc, Altug; Bora, ELÇİN; Çinleti, TAYFUN; Yıldız, GİZEM; Torun Bayram, MERAL; Giray Bozkaya, ÖZLEM; Ülgenalp, AYFER

doi:10.30621/jbachs.2019.719

Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome

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Koc A., Bora E., Çinleti T., Yıldız G., Torun Bayram M., Giray Bozkaya Ö., ...More

JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES, vol.3, no.3, pp.165-169, 2019 (ESCI)

Publication Type: Article / Article
Volume: 3 Issue: 3
Publication Date: 2019
Doi Number: 10.30621/jbachs.2019.719
Journal Name: JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES
Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
Page Numbers: pp.165-169
Keywords: Alport syndrome, Hereditary Nephritis, COL4A3, COL4A4, COL4A5, DIGENIC INHERITANCE, GUIDELINES, MUTATION
Dokuz Eylül University Affiliated: Yes

Abstract

Objectives: We have no series report concerning genetic etiology of Alport Syndrome (AS) in our country. So, we aimed to investigate AS related pathogenic variants of COL4A3, COL4A4 and COL4A5 genes in index cases and their families who referred to our center.