Φορτώνει......
Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia
BACKGROUND: Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either of the two genes PCCA or PCCB. The present study aimed to identify the genetic c...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | BMC Med Genet |
|---|---|
| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2020
|
| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7137301/ https://ncbi.nlm.nih.gov/pubmed/32252659 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01008-y |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|