𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria

✍ Scribed by Lindberg, Raija L.P.; Porcher, Catherine; Grandchamp, Bernard; Ledermann, Birgit; Bürki, Kurt; Brandner, Sebastian; Aguzzi, Adriano; Meyer, Urs A.


Book ID
109915202
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
659 KB
Volume
12
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Acute intermittent porphyria caused by a
✍ Makoto Daimon; Keiichi Yamatani; Masahiko Igarashi; Norio Fukase; Atsushi Ogawa; 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 876 KB

Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the eDNA fra

Acute intermittent porphyria caused by a
✍ Makoto Daimon; Keiichi Yamatani; Masahiko Igarashi; Norio Fukase; Yoshihiro Mori 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 1013 KB

A single base insertion of C in exon 15 of the porphobilinogen deaminase (PBG-D) gene was observed in a patient with acute intermittent porphyria (AIP) by polymerase chain reaction (PCR)-direct sequencing analysis. The insertion locates between positions -22 and -21 from the translation termination