Home 5 Projects 5 Genetics of red cell enzyme deficiencies: mutation profile and selective or demographic influencing factors (Duration: 2010-2018)

Genetics of red cell enzyme deficiencies: mutation profile and selective or demographic influencing factors (Duration: 2010-2018)

Duration: 2010-2018

Abstract: The main objectives of this project are: 1) to identify mutations in genes such as G6PD, PK, TPI, P5N, HK or GPI leading to red cell enzyme deficiencies in Portuguese patients; and 2) to understand signatures of selective (malaria) or demographic events underlying mutated allele distribution

Coordinator: Licínio Manco

Participants: Licínio Manco (CIAS), Letícia Ribeiro (CIAS), Celeste Bento (CIAS), Luís Relvas, Janet Pereira (CIAS), Ana Paula Arez (CIAS)

Financial support: CIAS; Forum hematologico