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You can restrict your search results to a specific LH isoenzyme |
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Explore mutations supported or not supported by publications registered in PubMed |
- LH1 ARG715ALA - View
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- Passoja, K., K. Rautavuoma, L. Ala-Kokko, T. Kosonen and K. I. Kivirikko (1998). "Cloning and characterization of a third human lysyl hydroxylase isoform." Proc Natl Acad Sci U S A 95(18): 10482-10486 - DOI - PubMed - Mutations
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SiMPLOD ID | Isoenzyme | Mutation | Disease phenotype | CLINVAR | Reference papers | Viewer |
---|---|---|---|---|---|---|
SiMPLOD1-55 | Lysyl Hydroxylase 1 (human) | LH1 ARG715ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Passoja et al., 1998 | View |
SiMPLOD1-56 | Lysyl Hydroxylase 1 (human) | LH1 ARG718ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Passoja et al., 1998 |
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