Φορτώνει......
Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss
Variants of KCNQ4 are one of the most common causes of dominantly inherited nonsyndromic hearing loss. We investigated a consanguineous family in which two individuals had prelignual hearing loss, apparently inherited in a recessive mode. Whole-exome sequencing analyses demonstrated genetic heteroge...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Gene |
|---|---|
| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2019
|
| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7709079/ https://ncbi.nlm.nih.gov/pubmed/31028865 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2019.04.064 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|