A de novo frame-shift mutation in the tuberin gene

A. Kumar, C. Wolpert, R. S. Kandt, J. Segal, J. Pufky, A. D. Roses, Margaret A Pericak-Vance, John Gilbert

Research output: Contribution to journal › Article

36 Citations (Scopus)
Original languageEnglish
Pages (from-to)1471-1472
Number of pages2
JournalHuman Molecular Genetics
Volume4
Issue number8
StatePublished - Jan 1 1995
Externally publishedYes

Fingerprint

Molecular Sequence Data
Repressor Proteins
Pedigree
Frameshift Mutation
Tuberous Sclerosis
Preschool Children
Mutation
DNA
Genes
Alleles
Gene
tuberous sclerosis complex 2 protein
Human
Case report

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Kumar, A., Wolpert, C., Kandt, R. S., Segal, J., Pufky, J., Roses, A. D., ... Gilbert, J. (1995). A de novo frame-shift mutation in the tuberin gene. Human Molecular Genetics, 4(8), 1471-1472.

A de novo frame-shift mutation in the tuberin gene. / Kumar, A.; Wolpert, C.; Kandt, R. S.; Segal, J.; Pufky, J.; Roses, A. D.; Pericak-Vance, Margaret A; Gilbert, John.

In: Human Molecular Genetics, Vol. 4, No. 8, 01.01.1995, p. 1471-1472.

Research output: Contribution to journal › Article

Kumar, A, Wolpert, C, Kandt, RS, Segal, J, Pufky, J, Roses, AD, Pericak-Vance, MA & Gilbert, J 1995, 'A de novo frame-shift mutation in the tuberin gene', Human Molecular Genetics, vol. 4, no. 8, pp. 1471-1472.
Kumar A, Wolpert C, Kandt RS, Segal J, Pufky J, Roses AD et al. A de novo frame-shift mutation in the tuberin gene. Human Molecular Genetics. 1995 Jan 1;4(8):1471-1472.
Kumar, A. ; Wolpert, C. ; Kandt, R. S. ; Segal, J. ; Pufky, J. ; Roses, A. D. ; Pericak-Vance, Margaret A ; Gilbert, John. / A de novo frame-shift mutation in the tuberin gene. In: Human Molecular Genetics. 1995 ; Vol. 4, No. 8. pp. 1471-1472.
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