𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations

✍ Scribed by A. FLOREANI; I. CARDERI; D. PATERNOSTER; G. SOARDO; F. AZZAROLI; W. ESPOSITO; A. VARIOLA; A. M. TOMMASI; D. MARCHESONI; C. BRAGHIN; G. MAZZELLA

Book ID
108604510
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
141 KB
Volume
23
Category
Article
ISSN
0269-2813

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Linkage between a new splicing site muta
Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy
✍ Gudrun Schneider; Teresa C. Paus; Gerd A. Kullak-Ublick; Peter J. Meier; Thomas πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 601 KB

Intrahepatic cholestasis of pregnancy (ICP) is defined as pruritus and elevated bile acid serum concentrations in late pregnancy. Splicing mutations have been described in the multidrug resistance p-glycoprotein 3 (MDR3, ABCB4) gene in up to 20% of ICP women. Pedigrees studied were not large enough

Identification of three novel mutations
Identification of three novel mutations in the MYO7A gene
✍ JosΓ© M. Cuevas; C. EspinΓ³s; J.M. MillΓ‘n; F. SΓ‘nchez; M.J. Trujillo; C. Ayuso; M. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 96 KB πŸ‘ 2 views

Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.