Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23

Protoporphyrinogen oxidase (PPO) catalyses the conversion of protoporphyrinogen IX to protoporphyrin IX, Variegate porphyria (VP), a low-penetrant, autosomal dominant disorder characterized clinically by skin lesions and neurovisceral attacks, is caused by partial deficiency of this enzyme. Linkage...

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Veröffentlicht in:	Human molecular genetics 1995-12, Vol.4 (12), p.2387-2390
Hauptverfasser:	Roberts, Andrew G., Whatley, Sharon D., Daniels, Jo, Holmans, Peter, Fenton, lain, Owen, Michael J., Thompson, Peter, Long, Colin, Elder, George H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Base Sequence Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 1 Cytogenetics DNA Errors of metabolism Flavoproteins Humans Medical sciences Metabolic diseases Mitochondrial Proteins Molecular Sequence Data Oxidoreductases - genetics Oxidoreductases Acting on CH-CH Group Donors Porphyrias, Hepatic - genetics Proteins and glycoproteins Protoporphyrinogen Oxidase
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