المؤلفون: Ziegler BM; Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina., Abelleyro MM; Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina., Marchione VD; Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina., Lazarte N; Unidad de Bioinformática, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina., Ledesma MM; Unidad de Bioinformática, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina., Elhelou L; Hematology, Fundación de la Hemofilia, Buenos Aires, Argentina., Neme D; Hematology, Fundación de la Hemofilia, Buenos Aires, Argentina., Rossetti LC; Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina., Medina-Acosta E; Center for Biosciences and Biotechnology, State University of North Fluminense Darcy Ribeiro, Campos dos Goytacazes, Brazil., Giliberto F; Laboratorio de Distrofinopatías, Facultad de Farmacia y Bioquímica, Cátedra de Genética, Universidad de Buenos Aires, Buenos Aires, Argentina.; Instituto de Inmunología, Genética y Metabolismo (INIGEM), CONICET-UBA, Buenos Aires, Argentina., De Brasi C; Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina., Radic CP; Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina yocpamelita@yahoo.com.ar.

المصدر: Journal of medical genetics [J Med Genet] 2024 Jul 19; Vol. 61 (8), pp. 769-776. Date of Electronic Publication: 2024 Jul 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: X Chromosome Inactivation*/genetics , Hemophilia A*/genetics , Pedigree*, Humans ; Female ; Male ; Algorithms ; Exome Sequencing/methods ; Factor VIII/genetics ; Chromosomes, Human, X/genetics ; Genomics/methods ; DNA Copy Number Variations/genetics ; Mutation/genetics ; Adult

المؤلفون: Jacob AT; Department of Biological Sciences, Butler University, Indianapolis, IN 46208, USA., Ziegler BM; Department of Biology, DeSales University, Center Valley, PA 18034, USA., Farha SM; Department of Biological Sciences, Butler University, Indianapolis, IN 46208, USA., Vivian LR; Department of Biological Sciences, Butler University, Indianapolis, IN 46208, USA., Zilinski CA; Department of Biology, DeSales University, Center Valley, PA 18034, USA., Armstrong AR; Department of Biology, DeSales University, Center Valley, PA 18034, USA., Burdette AJ; Department of Biological Sciences, Butler University, Indianapolis, IN 46208, USA., Beachboard DC; Department of Biology, DeSales University, Center Valley, PA 18034, USA., Stobart CC; Department of Biological Sciences, Butler University, Indianapolis, IN 46208, USA.; Interdisciplinary Program in Public Health, Butler University, Indianapolis, IN 46208, USA.

المصدر: Biology [Biology (Basel)] 2023 Nov 09; Vol. 12 (11). Date of Electronic Publication: 2023 Nov 09.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101587988 Publication Model: Electronic Cited Medium: Print ISSN: 2079-7737 (Print) Linking ISSN: 20797737 NLM ISO Abbreviation: Biology (Basel) Subsets: PubMed not MEDLINE