Details

Autor(en) / Beteiligte

• 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

Titel

Novel Presentation of Omenn Syndrome in Association with Aniridia

Ist Teil von

• Journal of allergy and clinical immunology, 2008-02, Vol.121 (2), p.S89-S89

Ort / Verlag

St. Louis: Mosby, Inc

Erscheinungsjahr

2008

Quelle

Access via ScienceDirect (Elsevier)

Beschreibungen/Notizen

• 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).