About Contact References Structures Adv. Search Stats Demo

Search Results - Advanced Search Options


Search results for keyword '416188':
- annotated PLOD mutations (1)
Show

- LH1 GLY678ARG (PLOD1 c.2032G>A) - ClinVar - View
Hide


- registered publications (1)
Show

- Elsas, L. J., 2nd, R. L. Miller and S. R. Pinnell (1978). "Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response." J Pediatr 92(3): 378-384 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "416188".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-107 Lysyl Hydroxylase 1 (human) LH1 GLY678ARG
(PLOD1 c.2032G>A)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Conflicting interpretations of pathogenicity		 14366 Ha et al., 1994Yeowell et al., 2000
Rohrbach et al., 2011
Miller et al., 1979
Dembure et al., 1984
Dembure et al., 1987
 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.