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المؤلفون: Peter Itin, Eli Sprecher, Bettina Burger, Ofer Sarig, Karl Heinimann, O. Eytan, Stefan Herms, I. Spoerri
المصدر: Journal of the European Academy of Dermatology and Venereology. 32:e389-e392
مصطلحات موضوعية: Male, 0301 basic medicine, Ubiquitin-Protein Ligases, Dermatology, Frameshift mutation, 03 medical and health sciences, Immune system, Familial pityriasis rubra pilaris, Psoriasis, medicine, Humans, Frameshift Mutation, Regulator gene, business.industry, Intracellular Signaling Peptides and Proteins, Case-control study, Membrane Proteins, medicine.disease, Phenotype, CARD Signaling Adaptor Proteins, 030104 developmental biology, Infectious Diseases, Guanylate Cyclase, Case-Control Studies, Pityriasis Rubra Pilaris, Immunology, Female, business
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المؤلفون: Mohnish Suri, Karl Heinimann, Usha Kini, Aude-Annick Suter, Peter Itin, Sabina Gallati, Pablo Lapunzina, Helen Fryssira, Peter Miny, Mette Sommerlund, Munaza Ahmed, Tazeen Ashraf, Pradeep C. Vasudevan, Signe Vaeth
المساهمون: University of Zurich, Gallati, Sabina
المصدر: Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina (2016). Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular genetics & genomic medicine, 4(3), pp. 359-366. Wiley 10.1002/mgg3.209 <http://dx.doi.org/10.1002/mgg3.209>
Molecular Genetics & Genomic Medicine
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Suter, A-A, Itin, P, Heinimann, K, Ahmed, M, Ashraf, T, Fryssira, H, Kini, U, Lapunzina, P, Miny, P, Sommerlund, M, Suri, M, Væth, S, Vasudevan, P & Gallati, S 2016, ' Rothmund-Thomson Syndrome : novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene ', Molecular Genetics & Genomic Medicine, vol. 4, no. 3, pp. 359-366 . https://doi.org/10.1002/mgg3.209مصطلحات موضوعية: 0301 basic medicine, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, POIKILODERMA, PROTEIN, 610 Medicine & health, Poikiloderma, 030105 genetics & heredity, Biology, Bioinformatics, medicine.disease_cause, Rothmund–Thomson Syndrome, 03 medical and health sciences, symbols.namesake, Exon, Genotype-phenotype distinction, 1311 Genetics, MITOCHONDRIA, USB1 (C16orf57) gene, NEUTROPENIA, 1312 Molecular Biology, RECQL4 gene, Genetics, medicine, Molecular Biology, Rothmund–Thomson syndrome, Gene, Genetics (clinical), Sanger sequencing, Mutation, Rothmund-Thomson Syndrome, Original Articles, medicine.disease, 030104 developmental biology, Poikiloderma with neutropenia, OSTEOSARCOMA, symbols, 570 Life sciences, biology, Original Article, Dyskeratosis congenita
وصف الملف: application/pdf; mgg3.209.pdf - application/pdf