Φορτώνει......
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease
OBJECTIVE: Pelizaeus-Merzbacher-like disease is a rare hypomyelinating leukodystrophy caused by autosomal recessive mutations in GJC2, encoding a gap junction protein essential for production of a mature myelin sheath. A previously identified GJC2 mutation (c.-167G>A) in the promoter region is hy...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , , |
|---|---|
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2013
|
| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4183365/ https://ncbi.nlm.nih.gov/pubmed/24374284 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.12.001 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|