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Ferri, L. et al. Clinical Genetics.

Ferri, L. et al. Clinical Genetics. 2016 Feb

L. Ferri and colleagues report a new synonymous variant NM_000116.3 (TAZ):c.348C>T p.(Gly116Gly) observed in a young boy with Barth syndrome (BTHS). The new c.348C>T nucleotide change could alter the TAZ mRNA splicing processing. So they analyzed TAZ mRNAs in the patient’s fibroblasts and found an abnormal skipping of 24 bases (NM_000116.3:c.346_371), with the consequent ablation of 8 amino acid residues in the tafazzin protein (NP_000107.1:p.Lys117_Gly124del).



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