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Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.

A viable autosomal recessive mutation (named fch, or ferrochelatase deficiency) causing jaundice and anemia in mice arose in a mutagenesis experiment using ethylnitrosourea. Homozygotes (fch/fch) display a hemolytic anemia, photosensitivity, cholestasis, and severe hepatic dysfunction. Protoporphyri...

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Sparad:
I publikationen:J Clin Invest
Huvudupphov: Tutois, S, Montagutelli, X, Da Silva, V, Jouault, H, Rouyer-Fessard, P, Leroy-Viard, K, Guénet, J L, Nordmann, Y, Beuzard, Y, Deybach, J C
Materialtyp: Artigo
Språk:Inglês
Utgiven: American Society for Clinical Investigation 1991
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295715/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1939658/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115491
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