Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function

BACKGROUND: Desbuquois dysplasia (DBQD) was a rare autosomal recessive skeletal dysplasia. Calcium activated nucleotidase 1 (CANT1) mutation was identified as a common pathogenic change for DBQD type 1 and Kim variant but not for DBQD type 2. To our knowledge, all patients with DBQD type 1 currently...

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Detalles Bibliográficos
Autores principales: Wang, Hong-Dan, Guo, Liang-Jie, Feng, Zhan-Qi, Zhang, Da-Wei, Zhang, Meng-Ting, Gao, Yue, Chen, Chuan-Liang, Zhu, Bo-Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7487677/
https://www.ncbi.nlm.nih.gov/pubmed/32907608
http://dx.doi.org/10.1186/s13023-020-01492-8

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