Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III. | Genet Couns;23(3): 359-65, 2012. | MEDLINE

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Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III.

Chen, C P; Lin, S P; Suo, Y N; Chern, S R; Su, J W; Wang, W.

Affiliation

Chen CP; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. cpc_mmh@yahoo.com

Genet Couns ; 23(3): 359-65, 2012.

Article in En | MEDLINE | ID: mdl-23072183

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Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / Mutation, Missense / Collagen Type I Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans Language: En Journal: Genet Couns Journal subject: ETICA / GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: Country of publication:

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Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / Mutation, Missense / Collagen Type I Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans Language: En Journal: Genet Couns Journal subject: ETICA / GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: Country of publication: