Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran

@inproceedings{Manoochehri2014FamilySF,
  title={Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran},
  author={Jila Manoochehri and Roghayyeh Masoumi Dehshiri and Homan Faraji and Samaneh Mohammadi and Hassan Dastsooz and Tayebeh Moradi and Esmaeil Rezaei and Kh Sadeghi and Majid Fardaei},
  booktitle={Iranian journal of pediatric hematology and oncology},
  year={2014}
}
BACKGROUND Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier individuals for proper counseling. A novel mutation in exon 8 of ATP7B gene, c.2335T>G (p.Trp779Gly), with… CONTINUE READING