Carregant...
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
BACKGROUND: Molybdenum cofactor deficiency (MoCD) is a rare autosomal‐recessive disorder that results in the combined deficiency of molybdenum‐dependent enzymes. Four different genes are involved in Molybdenum cofactor biosynthesis: MOCS1, MOCS2, MOCS3, and GEPH. The classical form manifests in the...
Guardat en:
| Publicat a: | Mol Genet Genomic Med |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2019
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6565584/ https://ncbi.nlm.nih.gov/pubmed/30900395 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.657 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|