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A new mutation (db3J) at the diabetes locus in strain 129/J mice

✍ Scribed by E. H. Leiter; D. L. Coleman; A. B. Eisenstein; I. Strack

Publisher
Springer
Year
1980
Tongue
English
Weight
917 KB
Volume
19
Category
Article
ISSN
0012-186X

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Characterization of a new mutation (R292
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria
✍ Hubert Verneuil1; Francine Bourgeois; Felix Rooij; Peter D. Siersema; J. H. P. W πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 672 KB

A deficiency in the activity of uroporphyrinogen decarboxylase (UROD), the fifth enzyme of the haem biosynthetic pathway, is found in familial porphyria cutanea tarda (F-PCT) and hepatoerythropoietic porphyria (HEP). A new mutation (R292G) and a deletion have been found in a pedigree with two HEP pa