About Contact References Structures Adv. Search Stats Demo

Search Results - Advanced Search Options


Search results for keyword '10729709':
- annotated PLOD mutations (1)
Show

- LH1 TYR511END (PLOD1 c.1533C>G) - ClinVar - View
Hide


- registered publications (1)
Show

- Pousi, B., J. Heikkinen, J. Schroter, M. Pope and R. Myllyla (2000). "A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI." Mutat Res 432(1-2): 33-37 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "10729709".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-209 Lysyl Hydroxylase 1 (human) LH1 TYR511END
(PLOD1 c.1533C>G)		 Ehlers-Danlos syndrome, cardiovascular phenotype
Pathogenic		 14370 Walker et al., 1999Yeowell et al., 2000
Yeowell et al., 1997
Pousi et al., 2000
 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.