Normal CD40L Expression in an Infant with X-Linked Hyper IgM Syndrome By Gene Sequencing

Normal CD40L Expression in an Infant with X-Linked Hyper IgM Syndrome By Gene Sequencing

[...]generation sequencing showed a hemizygous mutation (c.431G>A) that resulted in an amino acid change in the TNF[alpha] domain of CD40L.

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Bibliographische Detailangaben
Veröffentlicht in:Journal of allergy and clinical immunology 2015-02, Vol.135 (2), p.AB12-AB12
Hauptverfasser: Pickell, Jeremy A., MD, Gallagher, Joel L., MD, Chang, Yenhui, MD/PhD, Patel, Niraj C., MD
Format: Artikel
Sprache:eng
Schlagworte:
Allergy and Immunology
Flow cytometry
Medical research
Mutation
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Beschreibung
Zusammenfassung:[...]generation sequencing showed a hemizygous mutation (c.431G>A) that resulted in an amino acid change in the TNF[alpha] domain of CD40L.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2014.12.974