دورية أكاديمية
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
| العنوان: | Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion |
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| المؤلفون: | Campuzano, Victoria, Montermini, Laura, Molto, Maria Dolores, Pianese, Luigi, Cossée, Mireille, Cavalcanti, Francesca, Monros, Eugenia, Rodius, François, Duclos, Franck, Monticelli, Antonella, Zara, Federico, Canizares, Joaquin, Koutnikova, Hana, Bidichandani, Sanjay I., Gellera, Cinzia, Brice, Alexis, Trouillas, Paul, De Michele, Guiseppe, Filla, Alessandro, De FRUTOS, Rosa, Palau, Francisco, Patel, Pragna I, Di Donato, Stefano, Mandel, Jean Louis, Cocozza, Sergio, Koenig, Michel, Pandolfo, Massimo |
| المساهمون: | Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Baylor College of Medecine, Dipartimento di Biologia e Patologia Cellulare e Moleculare, Università degli studi di Napoli Federico II, Istituto Neurologico Mediterraneo (NEUROMED I.R.C.C.S.), Università degli Studi di Roma "La Sapienza" = Sapienza University Rome -Università degli studi di Napoli Federico II, Hospital Universitari i Politècnic La Fe, Université de Valence, University of Valencia, Instituto Neurologico C. Besta, CHU Pitié-Salpêtrière AP-HP, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital neurologique et neurochirurgical Pierre Wertheimer CHU - HCL, Hospices Civils de Lyon (HCL) |
| المصدر: | ISSN: 0036-8075. |
| بيانات النشر: | HAL CCSD American Association for the Advancement of Science |
| سنة النشر: | 1996 |
| المجموعة: | Archive ouverte HAL (Hyper Article en Ligne, CCSD - Centre pour la Communication Scientifique Directe) |
| مصطلحات موضوعية: | [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology |
| الوصف: | International audience ; Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/8596916; hal-03168023; https://hal.univ-lorraine.fr/hal-03168023Test; PUBMED: 8596916 |
| DOI: | 10.1126/science.271.5254.1423 |
| الإتاحة: | https://doi.org/10.1126/science.271.5254.1423Test https://hal.univ-lorraine.fr/hal-03168023Test |
| رقم الانضمام: | edsbas.FFC7FE0F |
| قاعدة البيانات: | BASE |
| DOI: | 10.1126/science.271.5254.1423 |
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