Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Obeidova, Lena ^a   Elisakova, Veronika ^a   Stekrova, Jitka ^a   Reiterova, Jana ^a   Merta, Miroslav ^a   Tesar, Vladimir ^a   Losan, Frantisek ^b   Kohoutova, Milada ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Department of Nephrology of the First Faculty of Medicine General University Hospital ^*  (Czech Republic)

Author keywords

ADPKD; HRM; MLPA; Mutation; Mutational analysis; PKD gene; Polycystic kidney disease

Indexed keywords

GENOMIC DNA; POLYCYSTIN 1; POLYCYSTIN 2;

ADULT; AGED; ARTICLE; COHORT ANALYSIS; CONSENSUS SEQUENCE; CONTROLLED STUDY; CZECH REPUBLIC; DNA END JOINING REPAIR; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; INDEL MUTATION; INTRON; KIDNEY POLYCYSTIC DISEASE; LINKAGE ANALYSIS; LONG RANGE POLYMERASE CHAIN REACTION; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SPLICE SITE MUTATION;

COHORT STUDIES; CZECH REPUBLIC; FEMALE; GENETIC LINKAGE; GENETIC TESTING; HUMANS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TRANSITION TEMPERATURE; TRPP CATION CHANNELS;

EID: 84899477313     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-41     Document Type: Article

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