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1دورية أكاديمية
المؤلفون: Fadaie, Zeinab, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S, Ayuso, Carmen, Cremers, Frans PM, Roosing, Susanne, group, The ABCA4 study
المصدر: Human Mutation. 40(12)
مصطلحات موضوعية: Genetics, Aetiology, 2.1 Biological and endogenous factors, ATP-Binding Cassette Transporters, Alternative Splicing, Gene Expression Regulation, HEK293 Cells, Humans, Introns, Mutation, Phenotype, RNA Splice Sites, Retinal Diseases, Sequence Analysis, DNA, ABCA4, deep-intronic variants, noncanonical splice site variant, splice enhancers, splice silencers, Stargardt disease, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4pv716bwTest
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2دورية أكاديمية
المؤلفون: Lu Han, Zhen Zhang, Hui Wang, Hui Song, Qing Gao, Yuchun Yan, Ran Tao, Ping Xiao, Long Li, Qian Jiang, Qi Li
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
مصطلحات موضوعية: Currarino syndrome, MNX1, Genotype–phenotype analysis, Recurrent, Noncanonical splice site variant, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-020-01442-4Test; https://doaj.org/toc/1750-1172Test
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3
المؤلفون: Ran Tao, Qing Gao, Yuchun Yan, Qian Jiang, Hui Song, Hui Wang, Qi Li, Long Li, Zhen Zhang, Ping Xiao, Lu Han
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)مصطلحات موضوعية: China, Sacrum, Genotype, Nonsense mutation, lcsh:Medicine, Anal Canal, medicine.disease_cause, Frameshift mutation, symbols.namesake, Noncanonical splice site variant, Polymorphism (computer science), medicine, Missense mutation, Humans, Pharmacology (medical), Child, Genetics (clinical), Genetic testing, Genetics, Sanger sequencing, Homeodomain Proteins, Mutation, medicine.diagnostic_test, business.industry, Research, lcsh:R, Rectum, General Medicine, medicine.disease, Genotype–phenotype analysis, Syringomyelia, Phenotype, MNX1, symbols, Currarino syndrome, business, Recurrent, Digestive System Abnormalities, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::399c953358f0894342a6ca1416075fdbTest
http://europepmc.org/articles/PMC7310025Test