Identification of Two Novel Missense Mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) Gene in a Japanese Patient with Pseudoxanthoma Elasticum (PXE)

Yoshihiro Noji(Fukui Prefectural Hospital), Hiroshi Mabuchi(Kanazawa University), Wenxin Yu(University of Georgia), Masa‐aki Kawashiri(Kanazawa University), Atsushi Nohara(Kanazawa University), Yoshihide Uno(Ishikawa Prefectural Central Hospital), Tsuyoshi Nozue(Yokohama Sakae Kyosai Hospital), Toshinori Higashikata(Kanazawa University), Akihiro Inazu(Kanazawa University), Senshu Hifumi(Hokuriku Electric Power Company (Japan)), Yasuhiro Todo
Internal Medicine
January 1, 2004
10.2169/internalmedicine.43.1171
Cited by 24

Related Papers

Increased High-Density Lipoprotein Levels Caused by a Common Cholesteryl-Ester Transfer Protein Gene Mutation
|New England Journal of Medicine|1990|865
Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins
|Nature|1989|465
T wave peak-to-end interval and QT dispersion in acquired long QT syndrome: a new index for arrhythmogenicity
|Clinical Science|2003|313
T‐peak to T‐end interval may be a better predictor of high‐risk patients with hypertrophic cardiomyopathy associated with a cardiac troponin i mutation than qt dispersion
|Clinical Cardiology|2002|267
Intermediate-density lipoprotein and cholesterol-rich very low density lipoprotein in angiographically determined coronary artery disease.
|Circulation|1981|250