An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites

Nature Structural and Molecular Biology

Volumn 12, Issue 1, 2005, Pages 54-59

  Hastings, Michelle L ^a   Resta, Nicoletta ^b   Traum, Daniel ^c   Stella, Alessandro ^b   Guanti, Ginevra ^b   Krainer, Adrian R ^a  

^a Howard Hughes Medical Institute Cold Spring Harbor Laboratory Cold Spring Harbor   (United States)

^b UNIVERSITY OF BARI   (Italy)

^c STONY BROOK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN KINASE LKB1;

ARTICLE; CANONICAL ANALYSIS; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; INTRON; PEUTZ JEGHERS SYNDROME; PRIORITY JOURNAL; RNA SPLICING; SPLICEOSOME;

ALTERNATIVE SPLICING; BASE SEQUENCE; FEMALE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PEUTZ-JEGHERS SYNDROME; PROTEIN-SERINE-THREONINE KINASES; RNA SPLICE SITES; RNA, MESSENGER; RNA, SMALL NUCLEAR; SPLICEOSOMES;

EID: 11444258520     PISSN: 15459993     EISSN: None     Source Type: Journal    
DOI: 10.1038/nsmb873     Document Type: Article

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