Associated Papers
Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.
Sharmin N et al.
Plos One, 2025
40569950 (PubMed )
Supplement: pone.0326679.s001.pdf
Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta.
Seymen F et al.
Journal of Personalized Medicine, 2021
Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant.
Lepperdinger U et al.
Clinical Oral Investigations, 2020
A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.
Khan SA et al.
Bmc Medical Genetics, 2020
Characterization of the Cation Binding Sites in the NCKX2 Na+/Ca2+-K+ Exchanger.
Zhekova H et al.
Biochemistry, 2016
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.
Jalloul AH et al.
The Journal of Biological Chemistry, 2016
Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.
Herzog CR et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2015
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
Parry DA et al.
American Journal of Human Genetics, 2013
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