Publication
| Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP, The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res463(3):309-26 2000 |
| PubMed ID: 11018746 |
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| Records Return:
(6)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM01622 | Female | 19 YR | 83 | proband | PORPHYRIA, ACUTE INTERMITTENT | GM |
| GM06804 | Male | 16 YR | 72 | proband | LESCH-NYHAN SYNDROME; LNS | GM |
| GM03467 | Male | 5 DA | | proband | LESCH-NYHAN SYNDROME; LNS | GM |
| GM20392 | Male | 23 YR | | proband | LESCH-NYHAN SYNDROME; LNS | GM |
| GM20396 | Male | 1 MO | | proband | LESCH-NYHAN SYNDROME; LNS | GM |
| GM20397 | Male | | | proband | LESCH-NYHAN SYNDROME; LNS | GM |
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