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Identification of a new mutation responsible for hepatoerythropoietic porphyria

โœ Scribed by M. ROMANA; B. GRANDCHAMP; A. DUBART; S. AMSELEM; C. CHABRET; Y. NORDMANN; M. GOOSSENS; P.-H. ROMEO


Book ID
114727037
Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
503 KB
Volume
21
Category
Article
ISSN
0014-2972

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๐Ÿ“œ SIMILAR VOLUMES


Characterization of a new mutation (R292
โœ Hubert Verneuil1; Francine Bourgeois; Felix Rooij; Peter D. Siersema; J. H. P. W ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› Springer ๐ŸŒ English โš– 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