Publication
| Akeson AL, Wiginton DA, Dusing MR, States JC, Hutton JJ, Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. J Biol Chem263:16291-6 1988 |
| PubMed ID: 3182793 |
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| Records Return:
(6)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM04429 | Female | 7 YR | 484 | proband | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | 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 |
| GM02606 | Female | 8 MO | 226 | 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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