Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: A cohort study

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

David Vetrie, Igor Vořechovský, Paschalis Sideras et al. · Nature · 1993 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +7

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

Satoshi Tsukada, Douglas C. Saffran, David J. Rawlings et al. · Cell · 1993 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +17

Nomenclature for the description of human sequence variations

JT den Dunnen, Stylianos E. Antonarakis · Human Genetics · 2001 · 905 citations

Life Sciences, Genetics, Molecular Genetics +12

Clinical, Immunological, and Molecular Analysis in a Large Cohort of Patients with X-Linked Agammaglobulinemia: An Italian Multicenter Study

Alessandro Plebani, Annarosa Soresina, Roberto Rondelli et al. · Clinical Immunology · 2002 · 328 citations

Life Sciences, Immunology, Internal Medicine +13

Primary Immunodeficiencies: A Field in Its Infancy

Jean‐Laurent Casanova, Laurent Abel · Science · 2007 · 309 citations

Life Sciences, Immunology, Pediatrics +11