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Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs
The American Journal of Human Genetics · 2001 · Vol. 68(1) · pp. 64–80
Sandra L. Dabora✉(Brigham and Women's Hospital)Sergiusz Jóźwiak(Children's Memorial Health Institute)David Neal Franz(Cincinnati Children's Hospital Medical Center)Penelope Roberts(Brigham and Women's Hospital)Andrés Nieto(Brigham and Women's Hospital)Joon Yong Chung(Brigham and Women's Hospital)Yew-Sing Choy(Boston Children's Hospital)Mary Pat Reeve(Brigham and Women's Hospital)Elizabeth A. Thiele(Cincinnati Children's Hospital Medical Center)John C. Egelhoff(Cincinnati Children's Hospital Medical Center)Jolanta Kasprzyk‐Obara(Lurie Children's Hospital)Dorota Domańska‐Pakieła(Children's Memorial Health Institute)David J. Kwiatkowski(Brigham and Women's Hospital)
Tuberous Sclerosis Complex ResearchPolyomavirus and related diseasesTuberous sclerosisTSC1TSC2CohortDiseaseMedicineOncologyPathologyGeneticsBiology
MeSH terms
Tuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinAdolescentAdultChildChild, PreschoolChromatography, High Pressure LiquidDNA Mutational AnalysisExonsGenotypeHumansInfantMiddle AgedMolecular Sequence DataMutation
Funding
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke
Citations
992
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51
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100%
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References
Amino acid substitution matrices from protein blocks.
Proceedings of the National Academy of Sciences · 1992 · 6,351 citations
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