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Search results for keyword '25266621':
- annotated PLOD mutations (1)
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- LH1 PRO622ARGFS (PLOD1 c.1863_1864dup) - View
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- registered publications (1)
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- Tosun, A., S. Kurtgoz, S. Dursun and G. Bozkurt (2014). "A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation." Pediatr Neurol 51(4): 566-569. - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "25266621".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-329 Lysyl Hydroxylase 1 (human) LH1 PRO622ARGFS
(PLOD1 c.1863_1864dup)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Tosun et al., 2014 View

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