Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14

Kobe Journal of Medical Sciences

Volumn 54, Issue 1, 2008, Pages 73-81

  Sasongko, Teguh Haryo ^a   Wataya Kaneda, Mari ^b   Koterazawa, Keiko ^c   Gunadi, ^a   Yusoff, Surini ^a   Harahap, Indra Sari Kusuma ^a   Myeong, Jin Lee ^a   Matsuo, Masafumi ^a   Nishio, Hisahide ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b OSAKA UNIVERSITY   (Japan)

^c Himeji City Center for the Handicapped   (Japan)

Author keywords

DHPLC; NAGNAG; Splice acceptor site; TSC1; TSC2

Indexed keywords

RNA; TUBERIN;

ARTICLE; BINDING SITE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; GENE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN BINDING; REAL TIME POLYMERASE CHAIN REACTION; RNA SPLICING; TANDEM REPEAT; TUBEROUS SCLEROSIS; TUBEROUS SCLEROSIS COMPLEX 1 GENE; TUBEROUS SCLEROSIS COMPLEX 2 GENE;

ALLELES; BASE SEQUENCE; EXONS; HUMANS; MUTATION, MISSENSE; NUCLEOTIDES; RNA SPLICE SITES; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 45849138099     PISSN: 00232513     EISSN: 18830498     Source Type: Journal    
DOI: None     Document Type: Article

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