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A MUTATION SCREEN OF THE TSC1 GENE REVEALS 26 PROTEIN TRUNCATING MUTATIONS AND 1 SPLICE-SITE MUTATION IN A PANEL OF 79 TUBEROUS SCLEROSIS PATIENTS
Authors: YOUNG JM BURLEY MW JEREMIAH SJ JEGANATHAN D EKONG R OSBORNE JP POVEY S
Citation: Jm. Young et al., A MUTATION SCREEN OF THE TSC1 GENE REVEALS 26 PROTEIN TRUNCATING MUTATIONS AND 1 SPLICE-SITE MUTATION IN A PANEL OF 79 TUBEROUS SCLEROSIS PATIENTS, Annals of Human Genetics, 62, 1998, pp. 203-213
MUTATION SCREENING FOR TSC1 IN UK FAMILIES WITH TUBEROUS SCLEROSIS PROVIDES AN EXPLANATION FOR AN APPARENT CASE OF NON-PENETRANCE
Authors: POVEY S BURLEY MW YOUNG J JEREMIAH SJ JEGANATHAN D EKONG R FOX M OSBORNE J
Citation: S. Povey et al., MUTATION SCREENING FOR TSC1 IN UK FAMILIES WITH TUBEROUS SCLEROSIS PROVIDES AN EXPLANATION FOR AN APPARENT CASE OF NON-PENETRANCE, American journal of human genetics, 61(4), 1997, pp. 2015-2015
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