eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hartnup disease |
| Comorbidity | C0031117|peripheral neuropathies |
| Sentences | 1 |
| PubMedID- 26102530 | We quantitatively assessed both the conformational equilibrium and cellular trafficking of 12 variants of the alpha-helical membrane protein peripheral myelin protein 22 (pmp22), the intracellular misfolding of which is known to cause peripheral neuropathies associated with charcot-marie-tooth disease (cmt). |
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