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Free keyword. Search is performed through SiMPLOD id, mutations, structural annotations, paper abstracts, titles and authors
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You can restrict your search results to a specific LH isoenzyme
You can restrict your search results to a specific LH isoenzyme
You can restrict your search results to a specific disease phenotype
Explore mutations supported or not supported by publications registered in PubMed

Search results for keyword '11001813':
- annotated PLOD mutations (1)
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- LH1 GLN049END (PLOD1 c.145C>T) - View
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- registered publications (1)
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- Yeowell, H. N. and L. C. Walker (2000). "Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI." Mol Genet Metab 71(1-2): 212-224 - DOI - PubMed - Mutations
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The table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED
with records containing the keyword "11001813".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-83 Lysyl Hydroxylase 1 (human) LH1 GLN049END
(PLOD1 c.145C>T)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Yeowell et al., 2000 View

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