𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria

✍ Scribed by Guo, Shanshan; Wang, Lu; Li, Xiaojing; Nie, Guangjun; Li, Mianyang; Han, Bing


Book ID
122244808
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
117 KB
Volume
52
Category
Article
ISSN
1079-9796

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel point mutation in the uroporphyrin
✍ Takamura, Noboru; Hombrados, Isabelle; Tanigawa, Ken; Namba, Hiroyuki; Nagayama, πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 168 KB πŸ‘ 2 views

The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in a member of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Gu Β¨nther's disease. The patient was h