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A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report

INTRODUCTION: About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase. To our knowledge, the mutation pattern in Arab patients with severe combined immunodeficiency has never been report...

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Detalles Bibliográficos
Autores principales: Hellani, Ali, Almassri, Nidal, Abu-Amero, Khaled K
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726518/
https://www.ncbi.nlm.nih.gov/pubmed/19830125
http://dx.doi.org/10.1186/1752-1947-3-6799