Veronique Latger-Cannard and colleagues conduct analyses to describe the natural history, the haematological features and the genotype-phenotype correlations of FPD/AML (OMIM 601309) condition. They identified five missense, one non-sense, three frameshift mutations and two large deletions involving several genes including RUNX1.
Latger-Cannard, Veronique et al. Orphanet Journal of Rare Diseases.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway