Evidence for extensive locus heterogeneity in Naxos disease.
نویسندگان
چکیده
Karima Djabali, Amalia Martínez-Mir, Liran Horev, Laurent Klapholz, Benjamin Glaser, Angela M Christiano and Abraham Zlotogorski Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel Departments of Dermatology and Genetics & Development, Columbia University, New York, New York, U.S.A. Departments of Endocrinology, Hadassah Medical Center, Jerusalem, Israel Correspondence: Dr Abraham Zlotogorski, Department of Dermatology, Hadassah Medical Center, P.O.B. 12000, Jerusalem, Israel, 91120. Email: [email protected]
منابع مشابه
Genetic Heterogeneity of PKD1 and PKD2 Genes in Iran and Determination of the Genotype/Phenotype Correlations in Several Families with Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic nephropathy, which is characterized by replacement of renal parenchyma with multiple cysts. In Iran, the disease prevalence within the chronic hemodialysis patient population is approximately 8-10%. So far, three genetic loci have been identified to be responsible for ADPKD. Little information is available concernin...
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Arrhythmogenic cardiomyopathy (AC) is associated with mutations in genes encoding intercalated disc proteins and ultimately results in sudden cardiac death. A subset of patients with AC have the autosomal recessive cardiocutaneous disorder Naxos disease, which is caused by a 2-base pair deletion in the plakoglobin-encoding gene JUP that results in a truncated protein with reduced expression. In...
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ورودعنوان ژورنال:
- The Journal of investigative dermatology
دوره 118 3 شماره
صفحات -
تاریخ انتشار 2002