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A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.

VALLI, MAURIZIA;FORLINO, ANTONELLA;CETTA, GIUSEPPE;
1994-01-01
1994
Biochemistry & Biophysics focuses on the structure and chemistry of biomolecules and covers all aspects of basic biochemistry/biophysics, including molecular structure, enzyme kinetics and protein-protein interaction; this category also contains cross-disciplinary resources focused on a specific class of biological molecules, e.g., nucleic acids, steroids, magnesium, growth factors, free radicals, bio-membranes, and peptides. Excluded are resources dealing with the application of biochemical techniques to specific topics listed elsewhere in CC/LS. Resources with a strong emphasis on the integration of biochemical pathways (such as signal transduction or molecular motors) at the cellular level are placed in the Cell & Developmental Biology category.
HUMAN GENETICS
sì
WOS:A1994NP56500013
2-s2.0-0028363003
Sì, ma tipo non specificato
Inglese
Internazionale
STAMPA
93
6
681
687
8005592
9
info:eu-repo/semantics/article
262
Mottes, M; Sangalli, A; Valli, Maurizia; Forlino, Antonella; Gomez Lira, M; Antoniazzi, F; Constantinou Deltas, Cd; Cetta, Giuseppe; Pignatti, Pf...espandi
1 Contributo su Rivista::1.1 Articolo in rivista
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1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/447997
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