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.
"We were early Alamut adopters and this software has become essential to our daily diagnosis lab practice, saving time and reducing mistakes. The intuitivity of use and the new functionalities are a very useful help in our daily work."
PASCALE RICHARD M.D. Ph.D.