טוען...
The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects
The embryonic myosin isoform is expressed during fetal development and rapidly down-regulated after birth. Freeman-Sheldon syndrome (FSS) is a disease associated with missense mutations in the motor domain of this myosin. It is the most severe form of distal arthrogryposis, leading to overcontractio...
שמור ב:
| הוצא לאור ב: | J Biol Chem |
|---|---|
| Main Authors: | , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
American Society for Biochemistry and Molecular Biology
2016
|
| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4858979/ https://ncbi.nlm.nih.gov/pubmed/26945064 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.707489 |
| תגים: |
הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!
|