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).

Saved in:
Bibliographic Details
Published inJournal of allergy and clinical immunology Vol. 121; no. 2; p. S89
Main Authors 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 Journal Article
LanguageEnglish
Published St. Louis Mosby, Inc 01.02.2008
Elsevier Limited
Subjects
Allergy and Immunology
Deoxyribonucleic acid
DNA
Mutation
Online AccessGet full text

Cover

More Information
Summary: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