SASH1 is Involved in an Autosomal Dominant Lentiginous Phenotype
نویسندگان
چکیده
Yiqun G. Shellman1,*, Karoline A. Lambert1, Anne Brauweiler1, Pamela Fain2,3, Richard A. Spritz2, Melanie Martini4, Klaus-Peter Janssen4, Neil F. Box5, Tamara Terzian5, Marian Rewers3, Anelia Horvath6, Constantine A. Stratakis6, William A Robinson7, Steven E. Robinson7, David A. Norris1, Kristin B Artinger8, and Theresa R. Pacheco1,* 1Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Mail Stop 8127, k Aurora, CO 80045
منابع مشابه
MOLECULAR STUDY OF PKD1 & PKD2 GENES BY LINKAGE ANALYSIS AND DETERMINING THE GENOTYPE/PHENOTYPE CORRELATIONS IN SEVERAL IRANIAN FAMILIES WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
ABSTRACT Background: Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Up to three loci are involved in this disease, PKDI on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Methods: Here we report the first molecular genetic study of ADPKD and the existence oflocus heterogeneity for ADPKD in the Iranian populatio...
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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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عنوان ژورنال:
دوره 135 شماره
صفحات -
تاریخ انتشار 2015