Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

BMC Medical Genetics

Volumn 5, Issue , 2004, Pages

  Thongnoppakhun, Wanna ^a   Limwongse, Chanin ^a   Vareesangthip, Kriengsak ^a   Sirinavin, Chintana ^a   Bunditworapoom, Duangkamon ^a   Rungroj, Nanyawan ^a   Yenchitsomanus, Pai Thai ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ENDONUCLEASE; POLYCYSTIN 1;

ARTICLE; DNA ISOLATION; DNA SEQUENCE; DNA SPLICING; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MAPPING; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; KIDNEY POLYCYSTIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROMOTER REGION; PROTEIN ANALYSIS; RESTRICTION FRAGMENT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RNA SPLICING; SEQUENCE DELETION; TRPP CATION CHANNELS;

EID: 2542473467     PISSN: 14712350     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2350-5-2     Document Type: Article

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