𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Crigler-Najjar type II disease inheritance: A family study

✍ Scribed by P. Labrune; A. Myara; C. Hennion; J. P. Gout; F. Trivin; M. Odievre


Book ID
105312306
Publisher
Springer
Year
1989
Tongue
English
Weight
363 KB
Volume
12
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Genetic heterogeneitiy of Crigler-Najjar
✍ Philippe Labrune; Anne Myara; MichΓ¨le Hadchouel; Flavio Ronchi; Olivier Bernard; πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 586 KB

Crigler-Najjar syndrome type I (CN-I) is an autosomal recessive condition characterized by severe unconjugated hyperbilirubinemia caused by the lack of bilirubin-UDP-glucuronosyltransferase (B-UGT) activity in the liver. Two B-UGTs are coded for by a gene complex (UGT1) that maps to chromosome 2q37

Genetic defects at the UGT1 locus associ
✍ Ciotti, Marco; Obaray, Ridwan; MartΓ­n, Martin G.; Owens, Ida S. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 159 KB

Characterization of the UGT1 gene complex locus encoding both multiple bilirubin and phenol UDP-glucuronosyltransferases (transferases) has been critical in identifying mutations in the bilirubin isoforms. This study utilizes this information to identify the bases of deficient bilirubin UDP-glucuron