About Contact References Structures Adv. Search Stats Demo

Advanced Search

Search Keyword:
Free keyword. Search is performed through SiMPLOD id, mutations, structural annotations, paper abstracts, titles and authors
or show all mutations in the database
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 '9502428':
- annotated PLOD mutations (1)
Show

- LH1 delta282-325 (PLOD1 c.975+2_975+3insTT) - View
Hide


- registered publications (1)
Show

- 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
Hide



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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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

Thank you for using SiMPLOD - Created by Fornerislab@UniPV  - Last curated update: 1970-01-01 00:00:00
We truly hate messages and disclaimers about cookies and tracking of personal info. But don't worry, we don't use any.