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Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency...
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Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population

Kim H, Lim HS, Ryu JS, Kim HC, Lee S, Kim YT, Kim YJ, Lee KR, Park HJ, Han SH

PURPOSE: The mutation of the SLC26A4 gene is the second most common cause of congenital hearing loss after GJB2 mutations. It has been identified as a major cause of autosomal...
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