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A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI.
Zolezzi, F; Forlino, A; Mottes, M; Valli, M; Sensi, A; Calzolari, E; Pignatti, P F; Cetta, G.
Affiliation
  • Zolezzi F; Istituto di Biologia e Genetica, Università di Verona, Italy.
Hum Mutat ; 6(3): 268-71, 1995.
Article in En | MEDLINE | ID: mdl-8535451
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Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / RNA, Messenger / Collagen Type of study: Etiology_studies Limits: Adult / Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 1995 Document type: Article Affiliation country: Italia
Search on Google
Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / RNA, Messenger / Collagen Type of study: Etiology_studies Limits: Adult / Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 1995 Document type: Article Affiliation country: Italia
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