Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597 ̂ 598insIVS4)

Human Mutation

Volumn 18, Issue 5, 2001, Pages 397-410

  Abed, Abdalla A ^a   Günther, Klaus ^b   Kraus, Cornelia ^b   Hohenberger, Werner ^a   Ballhausen, Wolfgang G ^b  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

LKB1; Methylation; Mutation screening; Peutz Jeghers syndrome (PJS); Protein truncation test; RNA screening; Serine threonine protein kinase 11 (STK11); Serine threonine protein kinase 11

Indexed keywords

GENE PRODUCT; MESSENGER RNA; PROTEIN KINASE LKB1; PROTEIN SERINE THREONINE KINASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; DNA METHYLATION; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEUTZ JEGHERS SYNDROME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; TRANSCRIPTION REGULATION;

ALLELES; ALTERNATIVE SPLICING; BASE SEQUENCE; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC SCREENING; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PEUTZ-JEGHERS SYNDROME; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-SERINE-THREONINE KINASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA, MESSENGER; SEQUENCE DELETION;

EID: 0035159678     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1211     Document Type: Article

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