Publication
| Bonkowsky HL, Bloomer JR, Ebert PS, Mahoney MJ, Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts. J Clin Invest56:1139-48 1975 |
| PubMed ID: 1184741 |
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| Records Return:
(3)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM05005 | Female | 15 YR | 807 | proband | PROTOPORPHYRIA, ERYTHROPOIETIC | GM |
| GM05007 | Male | 40 YR | 807 | father | PROTOPORPHYRIA, ERYTHROPOIETIC | GM |
| GM05008 | Female | 26 YR | | proband | PROTOPORPHYRIA, ERYTHROPOIETIC | GM |
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