SLNSW-Clinical and Molecular Characterization and Disco...-TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7019135

Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1 -related Dysplasia

Full title: Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1 -related Dysplasia

Author/creator: Xu, Yang, Li, Li, Wang, Chun, Yue, Hua, Zhang, Hao, Gu, Jiemei, Hu, Weiwei, Liu, Lianyong, Zhang, Zhenlin.

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Record Identifier: TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7019135

Language: English

Formats: Articles

Publishers: Australia: Ivyspring International Publisher Pty Ltd

Permalink: https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7019135

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    Record title

    Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1 -related Dysplasia

    Record identifier

    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7019135

    Record permalink

    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7019135

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    Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1 -related Dysplasia

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    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7019135

    Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1 -related Dysplasia

    Full title

    Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1 -related Dysplasia

    Author / Creator

    Xu, Yang ; Li, Li ; Wang, Chun ; Yue, Hua ; Zhang, Hao ; Gu, Jiemei ; Hu, Weiwei ; Liu, Lianyong ; Zhang, Zhenlin

    Publisher

    Australia: Ivyspring International Publisher Pty Ltd

    Journal title

    International journal of biological sciences, 2020, Vol.16 (5), p.859-868

    Record Identifier

    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7019135

    Language

    English

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    Articles

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    Subjects and topics

    Age Arthritis Biomedical materials Chondrodystrophy COL2A1 COL2A1-related dysplasia Deafness Disorders Dysplasia Genetic analysis Genetic counseling Genetic screening Genotypes Mutation mutations Myopia Osteoarthritis Patients phenotype-genotype relation Phenotypes Physical examinations Prenatal diagnosis Radiography Research Paper X-ray radiography

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    Record Identifier

    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7019135

    Permalink

    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7019135

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