New advances in genetic studies of Fanconi anemia patients
An international consortium of researchers led by Universitat Autònoma de Barcelona (UAB) genetically characterises almost all Spanish patients and studies the clinical impact of the mutations.
The study describes over 130 pathogenic mutations and the origins and world distribution of some of the most frequent mutations.
The predominant genetic mutation originated in Europe thousands of years ago and later migrated to America. The Canary island of La Palma and Brazil, with a high prevalence of the disease, were two areas in which the mutation spread widely.
A consortium ...




