Concepedia

Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Sandra L. Dabora, Sergiusz Jóźwiak, David Neal Franz, Penelope Roberts, Andrés Nieto, Joon Yong Chung, Yew-Sing Choy, Mary Pat Reeve, Elizabeth A. Thiele, John C. Egelhoff,

The American Journal of Human Genetics · 2001 · 1K citations · 40 references

Open access

Concepts

Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsCopy Number VariantsGenetic DisordersGenetic SyndromesMutation AnalysisNeurogenetic DisordersTuberous Sclerosis ComplexMutational Spectrum AnalysisTsc1 GeneTsc1 MutationsTsc2 GeneTsc2 MutationsTuberous Sclerosis Complex Genetics

References

40

Amino acid substitution matrices from protein blocks.

Steven Henikoff, Jorja G. Henikoff · Proceedings of the National Academy of Sciences · 1992 · 6.4K citations

Life Sciences, Bioinformatics, Evolutionary Biology +16

Identification and characterization of the tuberous sclerosis gene on chromosome 16

Cell · 1993 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +7

Identification of the Tuberous Sclerosis Gene <i>TSC1</i> on Chromosome 9q34

Marjon van Slegtenhorst, Ronald De Hoogt, Caroline Hermans et al. · Science · 1997 · 1.7K citations

Medicine, Genetics, Molecular Genetics +16

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Epidemiology of Tuberous Sclerosis

J. OSBORNE, Alan Fryer, David Webb · Annals of the New York Academy of Sciences · 1991 · 739 citations

Medicine, Neurology, Neuropathology +4