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Additional complexity on human chromosome 15q: Identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
GENOME RESEARCH
A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders
CELL
Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications
AMERICAN JOURNAL OF HUMAN GENETICS
HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression
CYTOGENETICS AND CELL GENETICS
Genomic characterization of CD84 reveals the existence of five isoforms differing in their cytoplasmic domains
TISSUE ANTIGENS
RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN, AND BRITISH FAMILIES
Human mutation
IDENTIFICATION OF MUTATIONS IN THE DUPLICATED REGION OF THE POLYCYSTIC-KIDNEY-DISEASE-1 GENE (PKD1) BY A NOVEL-APPROACH
American journal of human genetics
MUTATION DEFECTION IN POLYCYSTIC KIDNEY-DISEASE-1 (PKD1) GENE
Journal of the American Society of Nephrology
RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN AND BRITISH FAMILIES
Journal of the American Society of Nephrology
A STABLE, NONSENSE MUTATION ASSOCIATED WITH A CASE OF INFANTILE ONSETPOLYCYSTIC-KIDNEY-DISEASE-1 (PKD1)
Human molecular genetics
SCREENING THE 3' REGION OF THE POLYCYSTIC-KIDNEY-DISEASE-1 (PKD1) GENE REVEALS 6 NOVEL MUTATIONS
American journal of human genetics
THE POLYCYSTIC KIDNEY-DISEASE-1 (PKD1) GENE ENCODES A NOVEL PROTEIN WITH MULTIPLE CELL RECOGNITION DOMAINS
Nature genetics
POLYCYSTIC KIDNEY-DISEASE .1. IDENTIFICATION AND ANALYSIS OF THE PRIMARY DEFECT
Journal of the American Society of Nephrology
SPLICING MUTATIONS OF THE POLYCYSTIC-KIDNEY-DISEASE-1 (PKD1) GENE INDUCED BY INTRONIC DELETION
Human molecular genetics
AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - MOLECULAR ANALYSIS
Human molecular genetics
MICROSATELLITE POLYMORPHISMS FOR GENETIC DIAGNOSIS OF PKD1 AND TSC2 -EVIDENCE OF LINKAGE DISEQUILIBRIUM IN PKD1
Cytogenetics and cell genetics
IDENTIFYING FUNCTIONAL MOTIFS IN THE POLYCYSTIC KIDNEY-DISEASE-1 (PKD1) GENE
American journal of human genetics
REFINING THE LOCALIZATION OF THE PKD2 LOCUS ON CHROMOSOME 4Q BY LINKAGE ANALYSIS IN SPANISH FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE TYPE-2
American journal of human genetics
DELETION OF THE TSC2 AND PKD1 GENES ASSOCIATED WITH SEVERE INFANTILE POLYCYSTIC KIDNEY-DISEASE - A CONTIGUOUS GENE SYNDROME
Nature genetics
GENETIC-ANALYSIS OF CUBAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE KINDREDS USING RFLPS AND MICROSATELLITE POLYMORPHISMS LINKED TO THE PKD1 LOCUS
Human genetics
THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16
Cell
EVIDENCE OF LINKAGE DISEQUILIBRIUM IN THE SPANISH POLYCYSTIC KIDNEY-DISEASE-I POPULATION
American journal of human genetics
IDENTIFICATION AND CHARACTERIZATION OF THE TUBEROUS SCLEROSIS GENE ONCHROMOSOME-16
Cell
ESTIMATING LOCUS HETEROGENEITY IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN THE SPANISH POPULATION
Journal of Medical Genetics