Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis

By Jones Alistair C.   Daniells Claire E.   Snell Russell G.   Tachataki Maria   Idziaszczyk Shelley A.   Krawczak Michael   Sampson Julian R.   Cheadle Jeremy P.  

Human Molecular Genetics, Vol. 6, Iss. 12, 1997-11 ,pp. : 2155-2161

Oxford University Press

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Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin

By Li S.   Braverman R.   DeClue J.E.   Hodges A.K.   Maynard J.   Parry L.   Cheadle J.P.   Sampson J.R.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2899-2905

Oxford University Press

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A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles

By Pollizzi Kristen   Malinowska-Kolodziej Izabela   Doughty Cheryl   Betz Charles   Ma Jian   Goto June   Kwiatkowski David J.  

Human Molecular Genetics, Vol. 18, Iss. 13, 2009-07 ,pp. : 2378-2387

Oxford University Press

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Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

By Sampson J.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 1053-1057

Oxford University Press

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Mutations in the TSC2 Gene: Analysis of the Complete Coding Sequence Using the Protein Truncation Test (PTT)

By van Bakel Inge  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-09 ,pp. : 1409-1414

Oxford University Press

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