F.55. Rapid Flow Cytometry-based SMC1 Phosphorylation Assay for Identification of Ataxia-telangiectasia Homozygotes and Heterozygotes

A rapid flow cytometry test based on his

A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia

✍ Paola Porcedda; Valentina Turinetto; Alfredo Brusco; Simona Cavalieri; Erica Lan 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB

## Abstract Ataxia telangiectasia (A‐T) is a progressive neurodegenerative disease with onset in early childhood, caused by mutations in the __ATM__ (ataxia‐telangiectasia mutated) gene. Diagnosis relies on laboratory tests showing high levels of serum alphafetoprotein, cell sensitivity to ionizing