Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene
- Author
- TOFFOLATTI, Luisa1 ; CARDAZZO, Barbara1 ; FANIN, Marina5 ; PATARNELLO, Tomaso1 6 ; NOBILE, Carlo2 ; DANIELI, Gian Antonio1 ; GUALANDI, Francesca3 ; MUNTONI, Francesco4 ; ABBS, Steve4 ; ZANETTI, Patrizia1 ; ANGELINI, Corrado5 ; FERLINI, Alessandra3
[1] Dipartimento di Biologia, Università di Padown, 35121 Padova, Italy
[2] CNR Istituto di Neuroscienze, Sezione di Biologia e Fisiopatologia Neuromuscolare, Universite di Padova, 35121 Padova, Italy
[3] Dipartimento di Medicina Sperimetale Diagnostica, Sezione di Genetica Medica, Universita di Ferrara, Italy
[4] Neuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12, 0NN, United Kingdom
[5] Dipartimento di Scienze Neurologiche Psichiatriche, Universita di Padova, 35121 Padova, Italy
[6] Facoltà Veterinaria Agripolis, Università di Padova, 35121 Padova, Italy - Source
Genomics (San Diego, Calif.). 2002, Vol 80, Num 5, pp 523-530, 8 p ; ref : 33 ref
- ISSN
- 0888-7543
- Scientific domain
- Cell biology, histology; Genetics
- Publisher
- Elsevier, San Diego, CA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- breakpoints deletion junctions dystrophin gene intron 47 intron 48 recombination mechanisms repetitive elements
- Keyword (fr)
- Cassure bicaténaire Chromosome Dystrophine Délétion Homme Mutation Recombinaison Réparation
- Keyword (en)
- Double strand break Chromosome Dystrophin Deletion Human Mutation Recombination Repair
- Keyword (es)
- Ruptura bicatenaria Cromosoma Distrofina Deleción Hombre Mutación Recombinación Reparación
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04C Molecular genetics / 002A04C02 Genes. Genome
- Discipline
- Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14001737
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1006/geno.2002.6861 
https://dx.doi.org/10.1006/geno.2002.6861
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