eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | homocystinuria |
| Comorbidity | C0042847|cobalamin deficiency |
| Sentences | 1 |
| PubMedID- 26253414 | The mutations of c.609g>a (p.w203x), c.217c>t (p.r73x) and c.365a>t (p.h122l) in the methylmalonic aciduria (cobalamin deficiency) cbl-c type, with homocystinuria gene were detected in the 3 patients. |
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