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Search results for keyword '9450904':
- annotated PLOD mutations (1)
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- LH1 delta551-585 (PLOD1 c.1651-2A>G) - View
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- registered publications (1)
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- Pousi, B., T. Hautala, J. C. Hyland, J. Schroter, B. Eckes, K. I. Kivirikko and R. Myllyla (1998). "A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene." Hum Mutat 11(1): 55-61 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "9450904".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-326 Lysyl Hydroxylase 1 (human) LH1 delta551-585
(PLOD1 c.1651-2A>G)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Rohrbach et al., 2011Pousi et al., 1998
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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., 1998
Hilderink et al., 1995
Krieg et al., 1979
Ihme et al., 1984
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