Results 381 to 383 of about 1,506,824 (383)

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Nature Genetics, 1998
P. Vicart, A. Caron, P. Guicheney, Zhenlin Li, M. Prevost, A. Faure, D. Château, F. Chapon, F. Tomé, J. Dupret, D. Paulin, M. Fardeau   +11 more
semanticscholar   +1 more source

A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Nature Genetics, 1995
O. Steinlein, J. Mulley, P. Propping, R. Wallace, H. Phillips, G. Sutherland, I. Scheffer, S. Berkovic   +7 more
semanticscholar   +1 more source

Missense mutations at ATM gene and cancer risk

The Lancet, 1999
I, Vorechovsky, L, Luo, E, Ortmann, D, Steinmann, T, Dörk   +4 more
openaire   +3 more sources