Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

Human Genetics

Volumn 98, Issue 4, 1996, Pages 437-442

  Neophytou, Pavlos ^a   Constantinides, Rolandos ^a   Lazarou, Akis ^b   Pierides, Alkis ^b   Constantinou Deltas, C ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b NICOSIA GENERAL HOSPITAL   (Cyprus)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; GENE PRODUCT;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; CAUCASIAN; CHROMOSOME 16; CLINICAL ARTICLE; CONTROLLED STUDY; CYPRUS; CYTOPLASM; DNA POLYMORPHISM; DNA SEQUENCE; EXTRACELLULAR MATRIX; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE REARRANGEMENT; HETEROZYGOSITY; HUMAN; HUMAN CELL; KIDNEY POLYCYSTIC DISEASE; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; CLONING, MOLECULAR; CYPRUS; DNA PRIMERS; FEMALE; HUMANS; INTRONS; KIDNEY FAILURE, CHRONIC; LINKAGE (GENETICS); MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POINT MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; SEQUENCE DELETION; TRANSLOCATION, GENETIC; TRPP CATION CHANNELS;

EID: 0029791499     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050235     Document Type: Article

References (22)

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