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- Giunta, C., A. Randolph, L. I. Al-Gazali, H. G. Brunner, M. E. Kraenzlin and B. Steinmann (2005). "Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)." Am J Med Genet A 133A(2): 158-164. - DOI - PubMed - Mutations
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| SiMPLOD ID | Isoenzyme | Mutation | Disease phenotype | CLINVAR | Reference papers | Viewer |
|---|---|---|---|---|---|---|
| SiMPLOD1-35 | Lysyl Hydroxylase 1 (human) | LH1 ARG319END (PLOD1 c.955C>T) |
no disease phenotype information available Pathogenic |
14364 | Hyland et al., 1992Eyre et al., 2002 Giunta et al., 2005 Steinmann et al., 1995 al-Gazali et al., 1997 Royce et al. 1985 |
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