Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease

Journal of Human Genetics

Volumn 51, Issue 9, 2006, Pages 788-793

  Bergmann, Carsten ^a   Frank, Valeska ^a   Küpper, Fabian ^a   Schmidt, Christa ^a   Senderek, Jan ^a   Zerres, Klaus ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Autosomal recessive polycystic kidney disease; Exon skipping; Minigene; Polycystic kidney and hepatic disease 1; Polyductin fibrocystin; Splice mutation; Splicing

Indexed keywords

FIBROCYSTIN;

ALLELE; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; CASE REPORT; CHROMOSOME; CONTROLLED STUDY; EXON; FEMALE; GENE CONSTRUCT; GENE MUTATION; GENE SEGREGATION; HUMAN; HUMAN CELL; INTRON; KIDNEY POLYCYSTIC DISEASE; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

BASE SEQUENCE; DNA, COMPLEMENTARY; FEMALE; HUMANS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; RECEPTORS, CELL SURFACE; RNA SPLICE SITES;

EID: 33748646158     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0022-4     Document Type: Article

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