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(Brigham and Women's Hospital), Sergiusz Jóźwiak(Lurie Children's Hospital), 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(Brigham and Women'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(Lurie Children's Hospital), David J. Kwiatkowski(Brigham and Women's Hospital)
The American Journal of Human Genetics
January 1, 2001
Cited by 999Open Access
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