The novel missense mutation Met48Lys in FKBP22 changes its structure and functions

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 mRNA leads to a wide spectrum of clinical phenotypes...

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Detalles Bibliográficos
Autores principales: Ishikawa, Yoshihiro, Mizuno, Nobuyo, Holden, Paul, Lim, Pei Jin, Gould, Douglas B., Rohrbach, Marianne, Giunta, Cecilia, Bächinger, Hans Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6965642/
https://www.ncbi.nlm.nih.gov/pubmed/31949249
http://dx.doi.org/10.1038/s41598-019-57374-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6965642/
https://www.ncbi.nlm.nih.gov/pubmed/31949249
http://dx.doi.org/10.1038/s41598-019-57374-y

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