Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing

Hyung Jun Park, Young Chul Choi, Seung Min Kim, Se Hoon Kim, Young Bin Hong, Bo Ram Yoon, Ki Wha Chung, Byung Ok Choi

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5 Citations (Scopus)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology