المؤلفون: Barny, I., Perrault, I., Michel, C., Goudin, N., Defoort-Dhellemmes, S., Ghazi, I., Kaplan, J., Rozet, J.M., Gerard, X.

المصدر: Genes, vol. 10, no. 5

مصطلحات موضوعية: Antigens, Neoplasm/genetics, Neoplasm/metabolism, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Codon, Nonsense, Cytoskeletal Proteins/genetics, Cytoskeletal Proteins/metabolism, Exons/genetics, Eye Abnormalities/genetics, Eye Diseases, Hereditary/genetics, Humans, Male, Neoplasm Proteins/genetics, Oligonucleotides, Antisense/genetics, RNA Splicing, Retina/metabolism, Retinal Dystrophies/genetics, Retinal Dystrophies/physiopathology, AON-mediated exon skipping, CEP290, Cilia elongation, Flanders founder c.4723A >, Leber congenital amaurosis and allied retinal ciliopathies, T nonsense mutation, spontaneous nonsense correction

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31091803; info:eu-repo/semantics/altIdentifier/pissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0B5866B8F2446; https://serval.unil.ch/notice/serval:BIB_0B5866B8F244Test; urn:issn:2073-4425; https://serval.unil.ch/resource/serval:BIB_0B5866B8F244.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0B5866B8F2446Test

الإتاحة: https://doi.org/10.3390/genes10050368Test
https://serval.unil.ch/notice/serval:BIB_0B5866B8F244Test
https://serval.unil.ch/resource/serval:BIB_0B5866B8F244.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0B5866B8F2446Test

المؤلفون: Iris Barny, Isabelle Perrault, Christel Michel, Nicolas Goudin, Sabine Defoort-Dhellemmes, Imad Ghazi, Josseline Kaplan, Jean-Michel Rozet, Xavier Gerard

المصدر: Genes; Volume 10; Issue 5; Pages: 368

مصطلحات موضوعية: Leber congenital amaurosis and allied retinal ciliopathies, CEP290, Flanders founder c.4723A >, T nonsense mutation, Cilia elongation, spontaneous nonsense correction, AON-mediated exon skipping

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes10050368Test

الإتاحة: https://doi.org/10.3390/genes10050368Test

المؤلفون: Barny, Iris, Perrault, Isabelle, Michel, Christel, Goudin, Nicolas, Defoort-Dhellemmes, Sabine, Ghazi, Imad, Kaplan, Josseline, Rozet, Jean-Michel, Gerard, Xavier

المصدر: Genes
Volume 10
Issue 5

مصطلحات موضوعية: Flanders founder c.4723A >, Cilia elongation, CEP290, AON-mediated exon skipping, spontaneous nonsense correction, Leber congenital amaurosis and allied retinal ciliopathies, T nonsense mutation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::fce5bc2d5df714a06165f27d91698cdfTest

المؤلفون: Imad Ghazi, Isabelle Perrault, Nicolas Goudin, Jean-Michel Rozet, Josseline Kaplan, Sabine Defoort-Dhellemmes, Iris Barny, Christel Michel, Xavier Gérard

المصدر: Genes, Vol 10, Iss 5, p 368 (2019)
Genes, vol. 10, no. 5

مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, 030105 genetics & heredity, Biology, spontaneous nonsense correction, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, Exon, Genetics, medicine, Leber congenital amaurosis and allied retinal ciliopathies, Genetics (clinical), Flanders founder c.4723A >, Mutation, Cilium, Retinal, medicine.disease, Molecular biology, Exon skipping, Cilia elongation, Ciliopathy, Antigens, Neoplasm/genetics, Antigens, Neoplasm/metabolism, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Codon, Nonsense, Cytoskeletal Proteins/genetics, Cytoskeletal Proteins/metabolism, Exons/genetics, Eye Abnormalities/genetics, Eye Diseases, Hereditary/genetics, Humans, Male, Neoplasm Proteins/genetics, Oligonucleotides, Antisense/genetics, RNA Splicing, Retina/metabolism, Retinal Dystrophies/genetics, Retinal Dystrophies/physiopathology, AON-mediated exon skipping, CEP290, Flanders founder c.4723A > Leber congenital amaurosis and allied retinal ciliopathies, T nonsense mutation, lcsh:Genetics, 030104 developmental biology, chemistry, RNA splicing, Retinal Dystrophies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d1b3289409a8e17d29649a47b30231Test
https://www.mdpi.com/2073-4425/10/5/368Test

المؤلفون: Miceli,M

المساهمون: University Of California, Los Angeles Los Angeles United States

مصطلحات موضوعية: Medicine and Medical Research, Biochemistry, Pharmacology, Calcium, NUCLEOTIDES, therapeutics, ribonucleic acids, drugs, GENOMICS, mutations, AON-mediated Exon skipping, Dantrolene, dmd (Duchenne muscular dystrophy), Dystrophin, aon (anti-sense-oligonucleotides), RNA therapeutics, rna (ribonucleic acids), RNA Seq analysis, chemical genomics

وصف الملف: text/html

العلاقة: http://www.dtic.mil/docs/citations/AD1033003Test

الإتاحة: http://www.dtic.mil/docs/citations/AD1033003Test
http://oai.dtic.mil/oai/oai?&verb=getRecord&metadataPrefix=html&identifier=AD1033003Test