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Search results for keyword '6432919':
- annotated PLOD mutations (1)
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- LH1 delta586-634 (PLOD1 c.1756-?_1902+?del) - View
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- registered publications (1)
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- Ihme, A., T. Krieg, A. Nerlich, U. Feldmann, J. Rauterberg, R. W. Glanville, G. Edel and P. K. Muller (1984). "Ehlers-Danlos syndrome type VI: collagen type specificity of defective lysyl hydroxylation in various tissues." J Invest Dermatol 83(3): 161-165. - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "6432919".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-327 Lysyl Hydroxylase 1 (human) LH1 delta586-634
(PLOD1 c.1756-?_1902+?del)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Pousi et al., 1998Hilderink et al., 1995
Krieg et al., 1979
Ihme et al., 1984
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