Načítá se...
Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy
Neuromuscular disorders encompass a wide range of conditions often associated with a genetic component. In the present study, we report a patient with severe infantile-onset amyotrophy in whom two compound heterozygous variants in the gene CACNA1H encoding for Ca(v)3.2 T-type calcium channels were i...
Uloženo v:
| Vydáno v: | Channels (Austin) |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Taylor & Francis
2019
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6527065/ https://ncbi.nlm.nih.gov/pubmed/31070086 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/19336950.2019.1614415 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|