المؤلفون: Durga Murugan, Senthil Kumar Babu, Ezhil Vendhan Kalaimamani, Kamaraj Raju

المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Macular corneal dystrophy (MCD), Carbohydrate sulfotransferase 6 gene (CHST6), Open Reading Frame mutation (ORF), In vivo confocal microscope (IVCM), Immunohistochemistry (IHC), Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/1eb4634c396b4815b824417b1acabcfb

المؤلفون: Shujiro Hayashi, Tomomi Yamaguchi, Tomoki Kosho, Ken Igawa

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: Vascular Ehlers–Danlos syndrome, COL3A1, triplet repeat sequence, endoplasmic reticulum stress, unfolded protein response, in-frame mutation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1017446/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/6897d02e74034619ad91cc8f46f55e4c

المؤلفون: Hideo SUGITA, Shin’ichi TAKEDA

المصدر: Proceedings of the Japan Academy, Series B. 2010, 86(7):748

المؤلفون: José Paulo Cabral de Vasconcellos, Fernanda Caroline Soardi, Izabella Agostinho Pena Neshich, Vital Paulino Costa, Goran Neshich, Mônica Barbosa de Melo, Carolina A. Braghini, Maricilda Palandi de Mello

المصدر: Gene. 523(1):50-57

مصطلحات موضوعية: Male, genetic structures, DNA Mutational Analysis, Optic disk, Glaucoma, Bioinformatics, In silico analyses, Exon, Age of Onset, Genetics, medicine.diagnostic_test, Exons, General Medicine, Middle Aged, Pedigree, Phenotype, Mutation (genetic algorithm), Female, Brazil, Glaucoma, Open-Angle, Adult, Molecular Sequence Data, Optic Disk, Gonioscopy, Biology, Young Adult, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Genetic Testing, Eye Proteins, Gene, Intraocular Pressure, Myocilin, Aged, Glycoproteins, Genetic testing, Computational Biology, Juvenile-onset open-angle glaucoma, medicine.disease, eye diseases, Protein Structure, Tertiary, Cytoskeletal Proteins, Ophthalmology, Mutation, Visual Fields, Age of onset, In-frame mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0279c3f8cf69d79b681511195059f10f

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/9c/65/Proc_Jpn_Acad_Ser_B_Phys_Biol_Sci_2010_Jul_21_86(7)_748-756.tar.gz

مصطلحات موضوعية: Duchenne muscular dystrophy, dystrophin, exon skipping, out-of-frame mutation, clinical trial, antisense oligonucleotides

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.349.3956

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.349.3956

المؤلفون: Dumpala, Pradeepkumar Reddy

الموضوعات: Catfishes Pathogens., Catfishes Diseases Prevention., Host-parasite relationships., Proteomics., Edwardsiella., Columnaris disease., Bacterial diseases in fishes., Bacterial proteins Identification., Pathogenic microorganisms., Septicemia., Poissons-chats Agents pathogènes., Poissons-chats Maladies Prévention., Relations hôte-parasite., Protéomique., Infection à Flexibacter columnaris., Poissons Maladies bactériennes., Protéines bactériennes Identification., Micro-organismes pathogènes., Septicémie., Bacterial diseases in fishes, Bacterial proteins, Columnaris disease, Edwardsiella, Host-parasite relationships, Pathogenic microorganisms, Proteomics, Septicemia

مصطلحات الفهرس: Iron-restriction, Serum, Complement, In-frame mutation, Ictalurus punctatus, Flavobacterium columnare, Edwardsiella ictaluri, 2-D DIGE, 2-D LC ESI MS/MS, 2-DE MALDI TOF/TOF, Proteomic analysis, Electronic resources, Electronic theses/dissertations, Dissertations, dissertations., Academic theses, Field guides, Academic theses., Thèses et écrits académiques.

URL: https://hdl.handle.net/11668/15318