Publication

Hirschhorn R, Yang DR, Israni A, Huie ML, Ownby DR, Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. Am J Hum Genet55(1):59-68 1994
PubMed ID: 8023852

Records Return:  (3) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM01715Male3 YR423probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM02445Male3 YR423probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM07345Female 1345maternal grandmotherCEPH/UTAH PEDIGREE 1345