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

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 syndrom...

Source: BMC Medical Genetics - August 29, 2019 Category: Genetics & Stem Cells Authors: Sadaf Noavar, Samira Behroozi, Taraneh Tatarcheh, Farshid Parvini, Majid Foroutan and Hossein Fahimi Tags: Case report Source Type: research