About Contact References Structures Adv. Search Stats Demo

Search Results - Advanced Search Options


Search results for keyword '11001813':
- annotated PLOD mutations (1)
Show

- LH1 GLN049END (PLOD1 c.145C>T) - View
Hide


- registered publications (1)
Show

- Yeowell, H. N. and L. C. Walker (2000). "Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI." Mol Genet Metab 71(1-2): 212-224 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "11001813".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-83 Lysyl Hydroxylase 1 (human) LH1 GLN049END
(PLOD1 c.145C>T)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Yeowell 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.