Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience
NGS emerges as a valuable diagnostic tool in cases of cholestasis where traditional methods fall short in providing a definitive diagnosis. Moreover, our study unveiled three previously undocumented variants in the <i>ABCB11</i> [c.1165G>C; p.(Ala389Pro) and c.783 + 1G>A] and <i>ABCC2</i> [c.4246_4247del; p.(Lys1416ValfsTer46)] genes.
Authors
- Serdar Mermer (ORCID: https://orcid.org/0000-0002-7810-258X)
- Engin Demir (ORCID: https://orcid.org/0000-0001-6263-5915)
- Burak Başer
- Gizem Ürel Demir (ORCID: https://orcid.org/0000-0002-9928-3236)
- Mehmet Ercüment Döğen (ORCID: https://orcid.org/0000-0002-5414-2771)
- Fatma Derya Bulut
- Berrak Bilginer-Gürbüz
- Ali İşlek
Institutions
- Mersin Üniversitesi (TR)
- Cukurova University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-11-13
- DOI
- https://doi.org/10.1159/000542594
- Citations
- 1
- Primary Topic
- Pediatric Hepatobiliary Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.57