| Catalog ID | Description | Percent Normal Activity | Specimen Assayed | Remark |
| GM05005 | PROTOPORPHYRIA, ERYTHROPOIETIC | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM05005 | PROTOPORPHYRIA, ERYTHROPOIETIC | | fibroblasts | Brenner et al (Am J Hum Genet 50:1203-1210 1992) reported that this fibroblast culture from a patient with protoporphyria had deficient ferrochelatase activity. Ferrochelatase mRNA levels measured by northern blotting were found to be equal to those found in normal controls. |
| GM05007 | PROTOPORPHYRIA, ERYTHROPOIETIC | | fibroblasts | Brenner et al (Am J Hum Genet 50:1203-1210 1992) reported that this fibroblast culture from a patient with protoporphyria had deficient ferrochelatase activity. Ferrochelatase mRNA levels measured by northern blotting were found to be equal to those found in normal controls. |
| GM05008 | PROTOPORPHYRIA, ERYTHROPOIETIC | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM05008 | PROTOPORPHYRIA, ERYTHROPOIETIC | | fibroblasts | Brenner et al (Am J Hum Genet 50:1203-1210 1992) reported that this fibroblast culture from a patient with protoporphyria had deficient ferrochelatase activity. Ferrochelatase mRNA levels measured by northern blotting were found to be equal to those found in normal controls. Sequence analysis of ferrochelatase cDNA showed a single point mutation a conversion of a T to a C resulting in replacement of phenylalanine (TTC) by a serine (TCC) at amino acid position 417 in the carboxy-terminal end of the protein. |
| GM06221 | PROTOPORPHYRIA, ERYTHROPOIETIC | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |