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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

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PIIS0091674916306248.pdf (1.73 MB)
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2017-01-01
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Stray-Pedersen, Asbjorg
Sorte, Hanne Sormo
Samarakoon, Pubudu
Gambin, Tomasz
Chinn, Ivan K.
Akdemir, Zeynep H. Coban
Erichsen, Hans Christian
Forbes, Lisa R.
Gu, Shen
Yuan, Bo
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Abstract
Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. Objective: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.
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Stray-Pedersen A., Sorte H. S. , Samarakoon P., Gambin T., Chinn I. K. , Akdemir Z. H. C. , Erichsen H. C. , Forbes L. R. , Gu S., Yuan B., et al., -Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders-, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.139, ss.232-245, 2017
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https://hdl.handle.net/20.500.12645/10396
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