Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects

Human Mutation

Volumn 14, Issue 5, 1999, Pages 401-411

  Mayer, Karin ^a,b   Ballhausen, Wolfgang ^a   Rott, Hans Dieter ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Hamartin; Mutation screening; RT PCR PTT; Splicing aberrations; TSC1; TSC2; Tuberin; Tuberous sclerosis complex

Indexed keywords

MUTANT PROTEIN; TUBERIN;

ARTICLE; GENE DELETION; GENE INSERTION; GENETIC PREDISPOSITION; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; TUBEROUS SCLEROSIS;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PROTEINS; REPRESSOR PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE DELETION; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0032733190     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199911)14:5<401::AID-HUMU6>3.0.CO;2-R     Document Type: Article

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