Publication
| Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA, Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. Hum Mol Genet3:817-8 1994 |
| PubMed ID: 7915931 |
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| Records Return:
(2)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM07291 | Female | 46 YR | 1024 | sister | ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | GM |
| GM07290 | Female | 26 YR | 1024 | proband | ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | GM |
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