A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

• Autores principales: Sadaf Noavar (Autor), Samira Behroozi (Autor), Taraneh Tatarcheh (Autor), Farshid Parvini (Autor), Majid Foroutan (Autor), Hossein Fahimi (Autor)
• Formato: Libro
• Publicado: BMC, 2019-08-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrome, pigmented hypertrichosis with insulin dependent diabetes, Faisala...