Missense mutation - PDFSEARCH.IO - Document Search Engine

Missense mutation
Results: 17

#	Item
1	Missense Mutations in the MEFV Gene Are Associated with Fibromyalgia Syndrome and Correlate with Elevated IL-1b Plasma Levels Jinong Feng1,2., Zhifang Zhang2., Wenyan Li1, Xiaoming Shen1, Wenjia Song1, Chunmei Yang1, Fra Add to Reading List Source URL: www.fibromyalgiatreatment.com Language: English - Date: 2014-04-06 18:30:26 Autoinflammatory syndromes Rheumatology Genetics Population genetics Genetic genealogy Periodic fever syndrome Familial Mediterranean fever MEFV Fibromyalgia Mediterranean fever Allele frequency Mutation
2	PDF Document Add to Reading List Source URL: www.biobase-international.com Language: English - Date: 2015-02-13 15:12:52 Missense mutation Cystic fibrosis Nonsense mutation Genetic code Biology Mutation Genetics
3	ORIGINAL CONTRIBUTION SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis Faisal Fecto, MD; Jianhua Yan, MD, PhD; S. Pavan Vemula; Erdong Liu, MD; Yi Yang, MS; Wenjie Chen, MD; Jian Guo Zheng, MD; Yo Add to Reading List Source URL: archneur.jamanetwork.com Language: English Motor neurone disease Anatomy Cognitive disorders Dementia SOD1 Amyotrophic lateral sclerosis Frontotemporal lobar degeneration Missense mutation TARDBP Biology Rare diseases Health
4	Microsoft Word - NOC110029_supp.doc Add to Reading List Source URL: archneur.jamanetwork.com Language: English Evolutionary biology Genetics Mutation Missense mutation Amyotrophic lateral sclerosis Cytochrome P450 reductase Philosophy of biology Biology Rare diseases Health
5	AP® BIOLOGY 2013 SCORING GUIDELINES Question 5 The table below shows the amino acid sequence of the carboxyl-terminal segment of a conserved polypeptide from four different, but related, species. Each amino acid is repr Add to Reading List Source URL: media.collegeboard.com Language: English - Date: 2013-09-04 13:45:11 Gene expression Protein biosynthesis Molecular genetics Genetic code Amino acid Point mutation Frameshift mutation Missense mutation Nucleic acid sequence Biology Mutation Molecular biology
6	Handbook Help Me Understand Genetics Mutations and Health Reprinted from Genetics Home Reference (http://ghr.nlm.nih.gov/) Add to Reading List Source URL: ghr.nlm.nih.gov Language: English Point mutation Insertion Frameshift mutation Genetic code Silent mutation Cystic fibrosis transmembrane conductance regulator Missense mutation Mutagen Nonsense mutation Biology Mutation Genetics
7	Article pubs.acs.org/JCTC Predicting the Impact of Missense Mutations on Protein−Protein Binding Aﬃnity Minghui Li,† Marharyta Petukh,‡ Emil Alexov,‡ and Anna R. Panchenko,† Add to Reading List Source URL: www.ncbi.nlm.nih.gov Language: English* - Date: 2014-04-15 13:11:29 Biology Science Molecular modelling Computational chemistry Molecular physics FoldX Point mutation Protein design Molecular dynamics Chemistry Protein structure Bioinformatics
8	HGMD Professional Schema Overview The HGMD database comprises four schemata: hgmd_pro, hgmd_snp, hgmd_advanced and hgmd_phenbase. The schema relevant to users who want to access data in HGMD Professional is hgmd_pro, whi Add to Reading List Source URL: www.biobase-international.com Language: English - Date: 2014-07-01 12:37:21 Molecular biology DNA Evolutionary biology Point mutation Genetic code Single-nucleotide polymorphism Insertion Deletion Missense mutation Biology Genetics Mutation
9	Handbook Help Me Understand Genetics Mutations and Health Reprinted from Genetics Home Reference (http://ghr.nlm.nih.gov/) Add to Reading List Source URL: www.ghr.nlm.nih.gov Language: English Point mutation Insertion Frameshift mutation Genetic code Silent mutation Cystic fibrosis transmembrane conductance regulator Missense mutation Mutagen Nonsense mutation Biology Mutation Genetics
10	The Journal of Neuroscience, October 1, 1996, 16(19):5993–5999 A Missense Mutation in the Sodium Channel Scn8a Is Responsible for Cerebellar Ataxia in the Mouse Mutant jolting David C. Kohrman,1 Marianne R. Smith,2 Al Add to Reading List Source URL: www.hg.med.umich.edu Language: English - Date: 2009-10-27 15:32:32 Integral membrane proteins Ion channels Neurological disorders Episodic ataxia Purkinje cell Action potential Sodium channel Inward-rectifier potassium ion channel Paramyotonia congenita Biology Electrophysiology Channelopathy