Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish
Zahka, K, Kalidas, K, Simpson, M A, Cross, H, Keller, B B, Galambos, C, Gurtz, K, Patton, M A, Crosby, A H
Published in Heart (British Cardiac Society) (01.10.2008)
Published in Heart (British Cardiac Society) (01.10.2008)
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Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase
Crosby, Andrew H, Simpson, Michael A, Cross, Harold, Proukakis, Christos, Priestman, David A, Neville, David C A, Reinkensmeier, Gabriele, Wang, Heng, Wiznitzer, Max, Gurtz, Kay, Verganelaki, Argyro, Pryde, Anna, Patton, Michael A, Dwek, Raymond A, Butters, Terry D, Platt, Frances M
Published in Nature genetics (01.11.2004)
Published in Nature genetics (01.11.2004)
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