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2016, ISBN 0128044691, ix, 180 pages
Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of... 
Genetic Diseases, Inborn | Mutation (Biology) | Genetic disorders | Nonsense mutation | Biology, life sciences
Book
The New England Journal of Medicine, ISSN 0028-4793, 09/2010, Volume 363, Issue 12, pp. 1189 - 1190
To the Editor: Erythrocytosis occurring in association with a subnormal serum erythropoietin level is indicative of underlying erythropoietin-independent... 
MEDICINE, GENERAL & INTERNAL | PREVALENCE | Polycythemia - genetics | Proteins - genetics | Phenotype | DNA Mutational Analysis | Humans | Janus Kinase 2 - genetics | Codon, Nonsense | Mutation, Missense | Bone marrow | Mutation | Lymphocytes | Pathogenesis
Journal Article
2016, ISBN 0128044691
Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of... 
Nonsense Mediated mRNA Decay | Genetic disorders | Targeted Gene Repair | Codon, Nonsense | Mutation (Biology)
Web Resource
The Journal of Physiology, ISSN 0022-3751, 01/2019, Volume 597, Issue 2, pp. 543 - 560
Electrophysiological characterization of Q1412X‐CFTR, a C‐terminal truncation mutation of cystic fibrosis transmembrane conductance regulator (CFTR) associated... 
Anion channel | ABC transporter | cystic fibrosis | PHYSIOLOGY | IVACAFTOR | PHOSPHORYLATION | STABILITY | ATP BINDING | CL-CHANNEL | NUCLEOTIDE-BINDING DOMAIN | NEUROSCIENCES | TRANSMEMBRANE CONDUCTANCE REGULATOR | IN-VITRO | DISEASE | CHLORIDE CHANNEL | Channel opening | Phosphorylation | Clonal deletion | Nonsense mutation | Channel gating | Fibrosis | Cystic fibrosis | Stop codon | Mutation | Gene deletion | Gating | Binding sites
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2012, Volume 366, Issue 3, pp. 243 - 249
Journal Article
Muscle & Nerve, ISSN 0148-639X, 10/2014, Volume 50, Issue 4, pp. 477 - 487
Journal Article
Journal Article
Journal Article
Journal Article
Nature, ISSN 0028-0836, 05/2010, Volume 465, Issue 7295, pp. 223 - 226
Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of motor neurons of the primary... 
OPEN-ANGLE GLAUCOMA | COMPLEX | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | EXPRESSION | NEMO | MYOSIN-VI | Amyotrophic Lateral Sclerosis - physiopathology | Humans | Middle Aged | Transcription Factor TFIIIA - genetics | Cytoplasm - metabolism | Male | NF-kappa B - metabolism | Cytoplasm - pathology | Transcription Factor TFIIIA - metabolism | Mutation, Missense - genetics | DNA-Binding Proteins - metabolism | Young Adult | Base Sequence | Aged, 80 and over | Adult | Female | Child | Superoxide Dismutase - metabolism | NF-kappa B - agonists | Amino Acid Sequence | NF-kappa B - antagonists & inhibitors | Amyotrophic Lateral Sclerosis - genetics | Japan | Mutant Proteins - genetics | Transcription Factor TFIIIA - chemistry | Exons - genetics | Mutant Proteins - metabolism | Mutation - genetics | Transcription Factor TFIIIA - analysis | Protein Transport | Amyotrophic Lateral Sclerosis - pathology | Asian Continental Ancestry Group | Pedigree | Mutant Proteins - chemistry | Adolescent | Amyotrophic Lateral Sclerosis - metabolism | Polymorphism, Single Nucleotide - genetics | Aged | Consanguinity | Superoxide Dismutase-1 | Mutant Proteins - analysis | Codon, Nonsense - genetics | Sequence Deletion - genetics | Cellular proteins | Gene mutations | Physiological aspects | Amyotrophic lateral sclerosis | Genetic aspects | Research | Health aspects | Risk factors | Haplotypes | Studies | Genes | Genetics | Amino acids | Mutation | Family medical history | Chromosomes | Apoptosis | Index Medicus
Journal Article