Publication
Akeson AL, Wiginton DA, States JC, Perme CM, Dusing MR, Hutton JJ, Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing. Proc Natl Acad Sci U S A84:5947-51 1987 |
PubMed ID: 3475710 |
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Records Return:
(6)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM00130 | Male | 25 YR | 700 | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
GM02184 | Male | 36 YR | 455 | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
GM02825 | Female | 4 MO | 446 | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
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 |
GM02471 | Male | | 219 | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM02756 | Male | 3 YR | | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
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