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- W2336681024 abstract "The two discovered mutations in COL1A1 gene, although first reported in China, are recurrent ones that have also been found elsewhere in type I osteogenesis imperfecta patients, suggesting their role in pathogenesis of Van der Hoeve syndrome.The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness.Genomic DNA was extracted from the blood of each patient and exons of COL1A1 gene were amplified using PCR and sequenced.Sequencing in some of the two family members revealed point mutations in exon 26 (c.1792C > T) and exon 43 (c.3076C > T) of COL1A1 gene, respectively." @default.
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- W2336681024 date "2016-04-04" @default.
- W2336681024 modified "2023-10-16" @default.
- W2336681024 title "Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients" @default.
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- W2336681024 doi "https://doi.org/10.3109/00016489.2016.1159327" @default.
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