𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family

✍ Scribed by Ken Tanigawa,Morad Bensidhoum,Noboru Takamura,Hiroyuki Namba…

Book ID
118291990
Publisher
Springer
Year
1996
Tongue
English
Weight
54 KB
Volume
97
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel point mutation in the uroporphyrin
Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family
✍ Takamura, Noboru; Hombrados, Isabelle; Tanigawa, Ken; Namba, Hiroyuki; Nagayama, 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB 👁 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 ¨nther's disease. The patient was h

A novel mutation that leads to a congeni
A novel mutation that leads to a congenital factor XI deficiency in a Japanese family
✍ Sato, Eriko; Kawamata, Norihiko; Kato, Atsushi; Oshimi, Kazuo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB 👁 2 views

We have identified a novel mutation leading to a congenital deficiency of the coagulation factor XI (FXI) in a Japanese family. A propositus was a 42-year-old female patient without bleeding tendency. Coagulant activity and the antigen level of FXI in her plasma were below the detectable range. The