Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex

Journal of Medical Genetics

Volumn 33, Issue 1, 1996, Pages 47-51

  Vrtel, R ^a,b   Verhoef, S ^a   Bouman, K ^c   Maheshwar, M M ^d   Nellist, M ^a   Van Essen, A J ^c   Bakker, P L G ^a   Hermans, C J ^a   Bink Boelkens, M Th E ^e   Van Elburg, R M ^e   Hoff, M ^f   Lindhout, D ^a   Sampson, J ^d   Halley, D J J ^a   Van Den Ouweland, A M W ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL OLOMOUC   (Czech Republic)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d CARDIFF UNIVERSITY   (United Kingdom)

^e UNIVERSITY OF GRONINGEN   (Netherlands)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Nonsense mutation; TSC2 gene; Tuberous sclerosis

Indexed keywords

ARTICLE; CHROMOSOME 16P; CHROMOSOME 9Q; DISEASE SEVERITY; GENE LOCATION; GENETIC HETEROGENEITY; HAMARTOMA; HUMAN; HUMAN CELL; MUTATION RATE; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; TUBEROUS SCLEROSIS;

EID: 19144372534     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.1.47     Document Type: Article

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