The Spectrum of NF1 Gene Variations in Southeastern Turkey
Aim:We aimed to expand the variant spectrum of the NF1 gene in Southeastern Turkey. Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement. The pathogenic variations of the NF1 gene are responsible for the NF1 phenotype.Mate...
Main Authors: | Emre Kırat, Hatice Mutlu Albayrak |
---|---|
Format: | Article |
Language: | English |
Published: |
Galenos Yayinevi
2021-09-01
|
Series: | Journal of Pediatric Research |
Subjects: | |
Online Access: |
http://jpedres.org/archives/archive-detail/article-preview/the-spectrum-of-inf1-i-gene-variations-in-southeas/48644
|
Similar Items
-
Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene
by: Karin Soares Cunha, et al.
Published: (2016-12-01) -
Paleoethnobotanical Analysis of Medieval Ziyaret Tepe (Southeastern Turkey)
by: Foley, Amanda Lynn
Published: (2015) -
Future Expectations of High School Students In Southeastern Turkey: Factors behind Future Expectations
by: Hüseyin Şimşek
Published: (2012-01-01) -
Retrospective analysis of 286 Brucellosis cases in the southeast of Turkey
by: Recep Tekin, et al.
Published: (2012-09-01) -
NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas
by: Camille Tlemsani, et al.
Published: (2019-08-01)