Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot
- Author
- SIRONI, Manuela1 ; POZZOLI, Uberto1 ; CAGLIANI, Rachele1 ; GIORDA, Roberto1 ; COMI, Giacomo P2 ; BARDONI, Alessandra1 ; MENOZZI, Giorgia1 ; BRESOLIN, Nereo1 2
[1] IRCCS E. Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842 Bosisio Parini (LC), Italy
[2] Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università di Milano, IRCCS Ospedale Maggiore Policlinico, 20100 Milan, Italy - Source
Human genetics. 2003, Vol 112, Num 3, pp 272-288, 17 p ; ref : 1 p.1/4
- CODEN
- HUGEDQ
- ISSN
- 0340-6717
- Scientific domain
- Biotechnology; Genetics
- Publisher
- Springer, Berlin
/
Springer, Heidelberg
/
Springer, New York, NY
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Dystrophie musculaire progressive Duchenne Dystrophine Délétion Homme Organisation gène Point chaud Réarrangement moléculaire
- Keyword (en)
- Duchenne muscular dystrophy Dystrophin Deletion Human Gene organization Hot spot Molecular rearrangement
- Keyword (es)
- Distrofia muscular progresiva Duchenne Distrofina Deleción Hombre Organización gene Punto caliente Recombinación molecular
- 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
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Discipline
- Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14599192
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
10.1007/s00439-002-0881-5 
https://dx.doi.org/10.1007/s00439-002-0881-5
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