Novel Presentation of Omenn Syndrome in Association with Aniridia

Novel Presentation of Omenn Syndrome in Association with Aniridia

Results DNA sequencing demonstrated 2 missense mutations in RAG1 (p.M1006V and p.M435V, previously described as causing OS) and 1 missense mutation in RAG2 (p.M502V).

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Veröffentlicht in:Journal of allergy and clinical immunology 2008-02, Vol.121 (2), p.S89-S89
Hauptverfasser: Delmonte, O.M, Sheehan, W.J, Miller, D.T, Roberts, A.E, Bonilla, F.A, Morra, M, Pai, S.Y, Notarangelo, L.D, Oettgen, H.C
Format: Artikel
Sprache:eng
Schlagworte:
Allergy and Immunology
Deoxyribonucleic acid
DNA
Mutation
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Zusammenfassung:Results DNA sequencing demonstrated 2 missense mutations in RAG1 (p.M1006V and p.M435V, previously described as causing OS) and 1 missense mutation in RAG2 (p.M502V).
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2007.12.355