A novel splice site mutation (156 + 1G → A) in the TSC2 gene

Human Mutation

Volumn 9, Issue 1, 1997, Pages 64-65

  Kumar, A ^a   Kandt, R S ^b   Wolpert, C ^a   Roses, A D ^a   Pericak Vance, M A ^a   Gilbert, J R ^a  

^a DUKE UNIVERSITY   (United States)

^b WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 16P; CHROMOSOME 9Q; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; TUBEROUS SCLEROSIS;

ADULT; HUMANS; MALE; MUTATION; REPRESSOR PROTEINS; RNA SPLICING; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0031021318     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:1<64::AID-HUMU12>3.0.CO;2-N     Document Type: Article

References (5)

1. European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305-1315.
2. Gomez MR (1988) Tuberous Sclerosis. 2nd Ed. New York: Raven Press.
3. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-45.
4. Orita M, Suzuki Y, Sekiya T, Hayashi, K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879.
5. Verhoef S, Vrtel R, Essen TV, Bakker L, Sikkens E, Halley D, Lindhout D, Ouweland AD (1995) Somatic mosaicism and clinical variation in tuberous sclerosis complex. Lancet 345: 202.