The novel missense mutation Met48Lys in FKBP22 changes its structure and functions
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DOI: 10.1038/s41598-019-57374-y
Abstract: Mutations in the FKBP14 gene encoding FKBP22 (FK506 Binding Protein 22 kDa) cause kyphoscoliotic Ehlers-Danlos Syndrome (kEDS). The first clinical report showed that a lack of FKBP22 protein due to mutations causing nonsense-mediated decay of the… read more here.
Keywords: met48lys fkbp22; novel missense; mutation met48lys; missense mutation ... See more keywords