Nalaganje...
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4 to a size of 1–10 units. The residual number of D4Z4 units inversely correlates with clinical severity, but significant clinical variability exists. Each unit contains a copy of th...
Shranjeno v:
| Main Authors: | , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2013
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3791262/ https://ncbi.nlm.nih.gov/pubmed/24075187 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.08.004 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|