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Thanatophoric Dysplasia Caused by Double Missense FGFR3 MutationsPANNIER, Stéphanie; MARTINOVIC, Jelena; HEUERTZ, Solange et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 6, pp 1296-1301, issn 1552-4825, 6 p.Article

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemiaKANNENGIESSER, Caroline; SANCHEZ, Mayka; LASCAUX, Axelle et al.Haematologica (Roma). 2011, Vol 96, Num 6, pp 808-813, issn 0390-6078, 6 p.Article

DECREASED EXPRESSION OF THE MITOCHONDRIAL MATRIX PROTEASES Lon AND CIpP IN CELLS FROM A PATIENT WITH HEREDITARY SPASTIC PARAPLEGIA (SPG13)HANSEN, J; CORYDON, T. J; PALMFELDT, J et al.Neuroscience. 2008, Vol 153, Num 2, pp 474-482, issn 0306-4522, 9 p.Article

Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesisKAPADIA, Hitesh; FRAZIER-BOWERS, Sylvia; OGAWA, Takuya et al.European journal of human genetics. 2006, Vol 14, Num 4, pp 403-409, issn 1018-4813, 7 p.Article

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological functionPANZERI, Chris; DE PALMA, Clara; MARTINUZZI, Andrea et al.Brain. 2006, Vol 129, pp 1710-1719, issn 0006-8950, 10 p., 7Article

Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variantsGREENBLATT, M. S; BEAUDET, J. G; GUMP, J. R et al.Oncogene (Basingstoke). 2003, Vol 22, Num 8, pp 1150-1163, issn 0950-9232, 14 p.Article

Resequencing and Association Analysis of the KALRN and EPHB1 Genes And Their Contribution to Schizophrenia SusceptibilityKUSHIMA, Itaru; NAKAMURA, Yukako; INADA, Toshiya et al.Schizophrenia bulletin. 2012, Vol 38, Num 3, pp 552-560, issn 0586-7614, 9 p.Article

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeVAN HOUDT, Jeroen K. J; NOWAKOWSKA, Beata Anna; CASTORI, Marco et al.Nature genetics. 2012, Vol 44, Num 4, pp 445-449, issn 1061-4036, 5 p.Article

Arena Syndrome Is Caused by a Missense Mutation in PLP1STEVENSON, Roger E; TARPEY, Patrick; MAY, Melanie M et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 5, pp 1081-1081, issn 1552-4825, 1 p.Article

Fibrinogen montreal : A novel missense mutation (Aα D496N) associated with hypofibrinogenaemiaSHEEN, Campbell R; BRENNAN, Stephen O; JABADO, Nada et al.Thrombosis and haemostasis. 2006, Vol 96, Num 2, pp 231-232, issn 0340-6245, 2 p.Article

A novel missense-mutation-related feature extraction scheme for 'driver' mutation identificationHUA TAN; JIGUANG BAO; XIAOBO ZHOU et al.Bioinformatics (Oxford. Print). 2012, Vol 28, Num 22, pp 2948-2955, issn 1367-4803, 8 p.Article

Analyses of a novel L130F missense mutation in FOXC1ITO, Yoko A; FOOTZ, Tim K; MURPHY, Tara C et al.Archives of ophthalmology (1960). 2007, Vol 125, Num 1, pp 128-135, issn 0003-9950, 8 p.Article

Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegansMASYUKOVA, Svetlana V; WINKELBAUER, Marlene E; WILLIAMS, Corey L et al.Human molecular genetics (Print). 2011, Vol 20, Num 15, pp 2942-2954, issn 0964-6906, 13 p.Article

Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2VAN STEENSEL, Maurice A. M; VAN GEEL, Michel; PARREN, Lizelotte J. M. T et al.Experimental dermatology. 2008, Vol 17, Num 4, pp 362-365, issn 0906-6705, 4 p.Article

A novel 1247T missense mutation in the haptoglobin 2 β-chain decreases the expression of the protein and is associated with ahaptoglobinemiaTEYE, Kwesi; QUAYE, Isaac K. E; KODA, Yoshiro et al.Human genetics. 2004, Vol 114, Num 5, pp 499-502, issn 0340-6717, 4 p.Article

A missense mutation in Tbce causes progressive motor neuronopathy in miceMARTIN, Natalia; JAUBERT, Jean; GOUNON, Pierre et al.Nature genetics. 2002, Vol 32, Num 3, pp 443-447, issn 1061-4036, 5 p.Article

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesisLOPEZ-MARTIN, José M; SALVIATI, Leonardo; SANTOS-OCANA, Carlos et al.Human molecular genetics (Print). 2007, Vol 16, Num 9, pp 1091-1097, issn 0964-6906, 7 p.Article

CME Neuroferritinopathy : Missense mutation in FTL causing early- onset bilateral pallidal involvementMACIEL, P; CRUZ, V. T; CONSTANTE, M et al.Neurology. 2005, Vol 65, Num 4, pp 603-605, issn 0028-3878, 3 p.Article

Identification of a SACS gene missense mutation in ARSACSOGAWA, T; TAKIYAMA, Y; SAKOE, K et al.Neurology. 2004, Vol 62, Num 1, pp 107-109, issn 0028-3878, 3 p.Article

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signalKAISER, Frank J; BREGA, Paola; RAFF, Michael L et al.European journal of human genetics. 2004, Vol 12, Num 2, pp 121-126, issn 1018-4813, 6 p.Article

A novel missense mutation D676N in the plasminogen gene causes loss of functional activityYAMAGUCHI, M; SUGIYAMA, S; NODA, H et al.Human heredity. 1997, Vol 47, Num 4, pp 234-236, issn 0001-5652Article

EVIDENCE THAT BACTERIOPHAGE T4 EPH₁ IS A MISSENSE HOC MUTATIONCHILDS JD; PILON R.1983; JOURNAL OF VIROLOGY; ISSN 0022-538X; USA; DA. 1983; VOL. 46; NO 2; PP. 629-631; BIBL. 5 REF.Article

Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics AnalysisIQBAL, Hina; SARFARAZ, Tayyba; ANJUM, Farida et al.Journal of Biomedicine and Biotechnology (Print). 2011, Vol 2011, issn 1110-7243, 304612.1-304612.11, 1Article

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patientsALI, Bassam R; HUIFANG XU; AKAWI, Nadia A et al.Human molecular genetics (Print). 2010, Vol 19, Num 11, pp 2239-2250, issn 0964-6906, 12 p.Article