A carregar...
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1
BACKGROUND: Defects in serine biosynthesis caused by loss of function mutations in PHGDH, PSAT1, and PSPH cause a set of rare, autosomal recessive diseases known as Neu-Laxova syndrome (NLS) or serine-deficiency disorders. The diseases present with a broad range of phenotypes including lethality, se...
Na minha lista:
| Publicado no: | J Inherit Metab Dis |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7444316/ https://ncbi.nlm.nih.gov/pubmed/32077105 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12227 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|