Results 321 to 330 of about 1,540,335 (330)

A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

Cell, 1994
E. Puffenberger, K. Hosoda, S. S. Washington, K. Nakao, D. Dewit, M. Yanagisawa, A. Chakravarti   +6 more
semanticscholar   +1 more source

Missense Mutation

2009
openaire   +1 more source

Leptin receptor missense mutation in the fatty Zucker rat

Nature Genetics, 1996
M. Phillips, Qingyun Liu, Holly A. Hammond, Valarie Dugan, P. Hey, C. Caskey, J. Hess   +6 more
semanticscholar   +1 more source

Mutation, Missense

2001
openaire   +1 more source

Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.

Arthritis & Rheumatism, 2011
I. Jéru, G. Le Borgne, E. Cochet, H. Hayrapetyan, P. Duquesnoy, G. Grateau, A. Morali, T. Sarkisian, S. Amselem   +8 more
semanticscholar   +1 more source

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

Human Mutation, 2011
G. Esposito, F. De Falco, N. Tinto, F. Testa, L. Vitagliano, Igor Cristian Maria Tandurella, L. Iannone, S. Rossi, E. Rinaldi, F. Simonelli, A. Zagari, F. Salvatore   +11 more
semanticscholar   +1 more source

Informational suppression of missense mutations

Cell, 1975
openaire   +1 more source

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

Nature Genetics, 1996
Heleni Vastardis, Heleni Vastardis, N. Karimbux, S. Guthua, J. Seidman, C. Seidman, C. Seidman   +6 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

A missense mutation in the gene for melanocyte-stimulating hormone receptor (MCIR) is associated with the chestnut coat color in horses

Mammalian Genome, 2009
L. Marklund, M. Moller, K. Sandberg, L. Andersson   +3 more
semanticscholar   +1 more source