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

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, Faisalabad hist...

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Bibliographic Details
Published in:BMC Med Genet
Main Authors: Noavar, Sadaf, Behroozi, Samira, Tatarcheh, Taraneh, Parvini, Farshid, Foroutan, Majid, Fahimi, Hossein
Format: Artigo
Language:Inglês
Published: BioMed Central 2019
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6716938/
https://ncbi.nlm.nih.gov/pubmed/31464584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0879-7
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