Identification and functional study of a novel variant of PAX9 causing tooth agenesis
Rong Lei,
Xili Qiu,
Ying Han
et al.
Abstract:ObjectivesTo search for pathogenic gene of a family with non‐syndromic tooth agenesis, and explore the possible pathogenesis.Materials and MethodsA Chinese family with non‐syndromic tooth agenesis was recruited and screened for the pathogenic variants by whole exome sequencing technology and co‐segregation analysis. The subcellular localization of wild‐type and mutant protein was detected by immunofluorescence assay. Cycloheximide chase assay was performed to examine the difference in degradation rate between … Show more
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