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

Sadaf NoavarSamira BehrooziTaraneh TatarchehFarshid ParviniMajid ForoutanHossein Fahimi

Published in: BMC medical genetics (2019)

The present study uncovered a rare novel homozygous frame-shift mutation c.307-308delTT in SLC29A3 gene of four related patients with various manifestation of SLC29A3-disorder. Such studies can help to conduct genetic counseling and subsequently, prenatal diagnosis more accurately for individuals at the high risk of these types of genetic disorders.

Keyphrases

genome wide
copy number
dna methylation
genome wide identification
gene expression
smoking cessation
human immunodeficiency virus
hiv testing
hiv infected