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Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis.
Genetic Testing and Molecular Biomarkers ( IF 1.1 ) Pub Date : 2020-06-04 , DOI: 10.1089/gtmb.2019.0235 Kirtal Hansdah 1 , Neha Singh 1 , Amal Bouzid 2 , Saurabh Priyadarshi 1 , Chinmay Sundar Ray 3 , Ashim Desai 4 , Khirod Chandra Panda 5 , Jyotish Chandra Choudhury 6 , Narayan Chandra Biswal 3 , Adel Tekari 2 , Saber Masmoudi 2 , Puppala Venkat Ramchander 1
Genetic Testing and Molecular Biomarkers ( IF 1.1 ) Pub Date : 2020-06-04 , DOI: 10.1089/gtmb.2019.0235 Kirtal Hansdah 1 , Neha Singh 1 , Amal Bouzid 2 , Saurabh Priyadarshi 1 , Chinmay Sundar Ray 3 , Ashim Desai 4 , Khirod Chandra Panda 5 , Jyotish Chandra Choudhury 6 , Narayan Chandra Biswal 3 , Adel Tekari 2 , Saber Masmoudi 2 , Puppala Venkat Ramchander 1
Affiliation
Background: Otosclerosis (OTSC) is a genetically heterogeneous disorder, characterized by abnormal bone growth in the middle ear, affecting the stapes bone. Previous studies have shown that single nucleotide polymorphisms (SNPs) of the COL1A1, BMP2, and BMP4 genes are linked to susceptibility of OTSC, musculoskeletal degenerative diseases, and bone remodeling.
中文翻译：
耳硬化症发展中COL1A1，BMP2和BMP4基因的遗传关联和mRNA表达的评估。
背景：耳硬化症（OTSC）是一种遗传异质性疾病，其特征是中耳的骨骼异常生长，影响了骨。先前的研究表明， COL1A1，BMP2和BMP4基因的单核苷酸多态性（SNP）与OTSC的易感性，肌肉骨骼退行性疾病和骨骼重塑有关。
更新日期：2020-06-04
中文翻译：
耳硬化症发展中COL1A1，BMP2和BMP4基因的遗传关联和mRNA表达的评估。
背景：耳硬化症（OTSC）是一种遗传异质性疾病，其特征是中耳的骨骼异常生长，影响了骨。先前的研究表明， COL1A1，BMP2和BMP4基因的单核苷酸多态性（SNP）与OTSC的易感性，肌肉骨骼退行性疾病和骨骼重塑有关。
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