Literature summary for 1.3.3.4 extracted from

Van Tuyll Van Serooskerke, A.M.; Schneider-Yin, X.; Schimmel, R.J.; Bladergroen, R.S.; Poblete-Gutierrez, P.; Barman, J.; van Geel, M.; Frank, J.; Minder, E.I.
Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications (2009), Cell. Mol. Biol., 55, 96-101.

Search for more literature for 1.3.3.4

Application

Application	Comment	Organism
diagnostics	detection of the naturally occuring 1082-1083insC mutation in the PPOX gene is a genetic marker for variegate porphyria in humans	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	detection of a naturally mutation designated 1082-1083insC in the Swiss population that is responsible for the variegate porphyria, an autosomal dominant genetic defectand one of the acute hepatic porphyrias, overview	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

Synonyms

Synonyms	Comment	Organism
PPOX	-	Homo sapiens

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Release 2023.1 (January 2023)