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Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.
Valli, M; Zolezzi, F; Mottes, M; Antoniazzi, F; Stanzial, F; Tenni, R; Pignatti, P; Cetta, G.
Affiliation
  • Valli M; Dipartimento di Biochimica, Università di Pavia, Italy.
Eur J Biochem ; 217(1): 77-82, 1993 Oct 01.
Article in En | MEDLINE | ID: mdl-8223589
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Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / Endopeptidases / Valine / Procollagen / Point Mutation / Glycine Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Eur J Biochem Year: 1993 Document type: Article Affiliation country: Country of publication:
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Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / Endopeptidases / Valine / Procollagen / Point Mutation / Glycine Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Eur J Biochem Year: 1993 Document type: Article Affiliation country: Country of publication: