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 |
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Records Return:
(3)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM01715 | Male | 3 YR | 423 | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM02445 | Male | 3 YR | 423 | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM07345 | Female | | 1345 | maternal grandmother | CEPH/UTAH PEDIGREE 1345 | GM |
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