A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript.

Human mutation

Volumn 15, Issue 1, 2000, Pages 115-

  Thongnoppakhun, A ^a   Rungroj, N ^a   Wilairat, P ^a   Vareesangthip, K ^a   Sirinavin, C ^a   Yenchitsomanus, P T ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIN; PROTEIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; HUMAN; KIDNEY POLYCYSTIC DISEASE; MALE; METHODOLOGY; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SEQUENCE DELETION; TRPP CATION CHANNELS;

EID: 0033629759     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU22>3.0.CO;2-Z     Document Type: Article

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