المؤلفون: Andrew E. Fry, Wolfgang Berger, Laurette Morlé, Sheila Palmer-Smith, István Magyar, Jean-Christophe Zech, Veronique Nas, John Neidhardt, Moira J MacDonald, Barbara Kloeckener-Gruissem, Henri Plauchu

المساهمون: University of Zurich, Kloeckener-Gruissem, B

المصدر: European Journal of Human Genetics, 21, 3, pp. 352-6
European Journal of Human Genetics, 21, 352-6

مصطلحات موضوعية: Male, 2716 Genetics (clinical), Eye Diseases, Short Report, 610 Medicine & health, Biology, medicine.disease_cause, Exon, chemistry.chemical_compound, 11124 Institute of Medical Molecular Genetics, Versicans, 1311 Genetics, Genetics, medicine, Humans, splice, Gene, Genetics (clinical), Mutation, Alternative splicing, RNA, Syndrome, Fibroblasts, Molecular biology, Pedigree, Alternative Splicing, chemistry, Chondroitin sulfate proteoglycan, 10076 Center for Integrative Human Physiology, biology.protein, Versican, 570 Life sciences, biology, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

وصف الملف: Novel_VCAN_mutations_and_evidence_for_unbalanced_alternative_splicing_in_the_pathogenesis_of_Wagner_syndrome.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ecb715cfea0374da13c2775bdeb9cf1
https://pubmed.ncbi.nlm.nih.gov/22739342