Publication
Hirschhorn R, Yang DR, Israni A, An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover. Ann Hum Genet58 ( Pt 1):1-9 1994 |
PubMed ID: 8031011 |
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Records Return:
(2)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM01390 | Male | 3 MO | 2974 | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM07037 | Female | | 13291 | paternal grandmother | CEPH/UTAH PEDIGREE 13291 | GM |
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