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Search results for keyword '9502428':
- annotated PLOD mutations (1)
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- LH1 delta282-325 (PLOD1 c.975+2_975+3insTT) - View
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- registered publications (1)
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- Pajunen, L., M. Suokas, T. Hautala, S. Kellokumpu, B. Tebbe, K. I. Kivirikko and R. Myllyla (1998). "A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI." DNA Cell Biol 17(2): 117-123 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "9502428".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-319 Lysyl Hydroxylase 1 (human) LH1 delta282-325
(PLOD1 c.975+2_975+3insTT)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Pajunen et al., 1998 View

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