Results 331 to 340 of about 1,702,970 (343)

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

Informational suppression of missense mutations

Cell, 1975
openaire   +1 more source

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome

British Journal of Dermatology, 2012
J. Lai-Cheong, Gomathy Sethuraman, M. Ramam, Katie Stone, Michael A. Simpson, John A. McGrath   +5 more
semanticscholar   +1 more source

Phenylketonuria splice mutation (EXON6nt‐96Ag) masquerading as missense mutation (Y204C)

Human Mutation, 1997
S, Ellingsen, P M, Knappskog, H G, Eiken
openaire   +2 more sources

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

Nature Genetics, 1995
Hannie Kremer, Sergio P. A. Toledo, Ilpo T Huhtaniemi   +2 more
exaly  

Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

Nature Genetics, 1994
Wolfgang Baehr
exaly  

A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers

American Journal of Human Genetics, 1998
Alan D Irvine, Wasim Ahmad, Angela M Christiano   +2 more
exaly  

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

Nature Genetics, 1993
Daniel D Oprian
exaly  

Missense mutation of S182 gene in Japanese familial Alzheimer's disease

Lancet, The, 1995
exaly