Novel mutatıons and diverse clinical phenotypes in recombınase-activating gene 1 deficiency

• Main Authors: Kutukculer Necil (Author), Gulez Nesrin (Author), Karaca Neslihan (Author), Aksu Guzide (Author), Berdeli Afig (Author)
• Format: Book
• Published: BMC, 2012-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Severe combined immunodeficiency is within a heterogeneous group of inherited defects throughout the development of T- and/or B-lymphocytes. Mutations in recombinase-activating genes 1 or 2 (RAG1/2) represent approximately 10% of all...