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Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I.
Lin, Yuxiang; Li, Xiaoli; Huang, Xinghua; Zheng, Dezhu; Liu, Yichu; Lan, Fenghua; Wang, Zhihong.
Affiliation
  • Lin Y; Research Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, China.
  • Li X; Research Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, China.
  • Huang X; Research Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, China.
  • Zheng D; Research Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, China.
  • Liu Y; Research Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, China.
  • Lan F; Research Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, China.
  • Wang Z; Research Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, China. Electronic address: xmzhwang@xmu.edu.cn.
Injury ; 50(12): 2215-2219, 2019 Dec.
Article de En | MEDLINE | ID: mdl-31653500
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Ostéogenèse imparfaite / Ostéoporose / Collagène de type I / Fractures osseuses Type d'étude: Diagnostic_studies / Etiology_studies / Prognostic_studies Limites: Adult / Female / Humans Langue: En Journal: Injury Année: 2019 Type de document: Article Pays d'affiliation: Chine Pays de publication: Pays-Bas
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Ostéogenèse imparfaite / Ostéoporose / Collagène de type I / Fractures osseuses Type d'étude: Diagnostic_studies / Etiology_studies / Prognostic_studies Limites: Adult / Female / Humans Langue: En Journal: Injury Année: 2019 Type de document: Article Pays d'affiliation: Chine Pays de publication: Pays-Bas