✦ LIBER ✦

A novel multidrug-resistance protein 2 gene mutation identifies a subgroup of patients with primary biliary cirrhosis and pruritus

✍ Scribed by I. Carderi; N.V. Bergasa; A. Variola; E. Rosa Rizzotto; J. Nicol; A. Floreani

Book ID: 119631890
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 236 KB
Volume: 38
Category: Article
ISSN: 1590-8658
DOI: 10.1016/s1590-8658(06)80086-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel multidrug-resistance protein 2 g

A novel multidrug-resistance protein 2 gene mutation identifies a subgroup of patients with primary biliary cirrhosis and pruritus

✍ Annarosa Floreani; Isabella Carderi; Angela Variola; Erik Rosa Rizzotto; James N 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 237 KB

A single nucleotide polymorphism characterized by the substitution of valine for glutamate (V1188E) in exon 25 of the multidrug resistance protein 2 gene was found in a group of patients with primary biliary cirrhosis. This heterozygous mutation was significantly associated with the presence of prur

Single-nucleotide polymorphism analysis

Single-nucleotide polymorphism analysis of the multidrug resistance protein 3 gene for the detection of clinical progression in Japanese patients with primary biliary cirrhosis

✍ Yuki Ohishi; Minoru Nakamura; Naomi Iio; Shingo Higa; Mao Inayoshi; Yoshihiro Ai 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 1002 KB

Primary biliary cirrhosis (PBC) is a multifactorial disease in which genetic factors rather than environmental factors may predominantly contribute to the pathogenesis. In order to identify the genetic determinants of the disease severity and progression of PBC, we examined an association of seven t

Two novel missense mutations of the OCTN

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency

✍ E. Mayatepek; J. Nezu; I. Tamai; A. Oku; M. Katsura; M. Shimane; A. Tsuji 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder of fatty acid oxidation caused by defective cellular carnitine transport. The disease is characterized by metabolic derangement simulating Reye´s syndrome, hypoglcaemia, progressive cardiomyopathy and skeletal myopathy. R

Novel Point Mutation of the α2-Globin Ge

Novel Point Mutation of the α2-Globin Gene ( HBA2 ) and a Rare 2.4 kb Deletion of the α1-Globin Gene ( HBA1 ), Identified in Two Chinese Patients with Hb H Disease

✍ So, Chi-Chiu; Chan, Amy Y. Y.; Ma, Edmond S. K. 📂 Article 📅 2014 🏛 Informa plc 🌐 English ⚖ 895 KB

Molecular Analysis of the Cyclic AMP-Dep

Molecular Analysis of the Cyclic AMP-Dependent Protein Kinase A (PKA) Regulatory Subunit 1A (PRKAR1A) Gene in Patients with Carney Complex and Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Reveals Novel Mutations and Clues For Pathophysiology: Augmented PKA Signaling is Associated with Adrenal Tumorigenesis in PPNAD

✍ Lionel Groussin; Lawrence S. Kirschner; Caroline Vincent-Dejean; Karine Perlemoi 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 913 KB