A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.
Genetic disorders involved in skeleton system arise due to the disturbance in skeletal development, growth and homeostasis. Filamin B is an actin binding protein which is large dimeric protein which cross link actin cytoskeleton filaments into dynamic structure. A single nucleotide changes in the FL...
| Publicado en: | Journal of Basic & Clinical Physiology & Pharmacology Vol. 35; no. 3; pp. 181 - 188 |
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| Autores principales: | , , , , , , , , |
| Formato: | case study pictorial tables/charts Journal Article |
| Publicado: |
De Gruyter
May2024
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| Acceso en línea: | Ver este registro en EBSCOhost |