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An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient.
Szucs, Zsuzsanna; Pinti, Éva; Haltrich, Irén; Szén, Orsolya Pálné; Nagy, Tibor; Barta, Endre; Méhes, Gábor; Bidiga, László; Török, Olga; Ujfalusi, Anikó; Koczok, Katalin; Balogh, István.
Afiliação
  • Szucs Z; Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
  • Pinti É; Doctoral School of Molecular Cell and Immune Biology, University of Debrecen, 4032 Debrecen, Hungary.
  • Haltrich I; 2nd Department of Pediatrics, Semmelweis University, 1094 Budapest, Hungary.
  • Szén OP; 2nd Department of Pediatrics, Semmelweis University, 1094 Budapest, Hungary.
  • Nagy T; Doctoral School of Molecular Cell and Immune Biology, University of Debrecen, 4032 Debrecen, Hungary.
  • Barta E; Bioinformatics and Functional Genome Analysis Research Group, Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
  • Méhes G; Bioinformatics and Functional Genome Analysis Research Group, Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
  • Bidiga L; Department of Genetics and Genomics, Institute of Genetics and Biotechnology, Hungarian University of Agriculture and Life Sciences, 2100 Gödöllo, Hungary.
  • Török O; Department of Pathology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
  • Ujfalusi A; Department of Pathology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
  • Koczok K; Medical and Health Science Centre, Department of Obstetrics and Gynaecology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
  • Balogh I; Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
Int J Mol Sci ; 23(21)2022 Oct 28.
Article em En | MEDLINE | ID: mdl-36361862

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofina / Distrofia Muscular de Duchenne Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofina / Distrofia Muscular de Duchenne Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article