Φορτώνει......
Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome
Neuro-ichthyotic syndromes are a group of rare genetic diseases mainly associated with perturbations in lipid metabolism, intracellular vesicle trafficking, or glycoprotein synthesis. Here, we report a patient with a neuro-ichthyotic syndrome associated with deleterious mutations in the ALDH1L2 (ald...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | NPJ Genom Med |
|---|---|
| Κύριοι συγγραφείς: | , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group UK
2019
|
| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6650503/ https://ncbi.nlm.nih.gov/pubmed/31341639 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-019-0092-9 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|