2280. Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte.
Choi HS1, Choi Q2, Kim JA3, Im KO4, Park SN4, Park Y5, Shin HY4,6, Kang HJ4,6, Kook H7, Kim SY8, Kim SJ9, Kim I10, Kim JY11, Kim H12, Park KD4,6, Park KB13, Park M14, Park SK15, Park ES16, Park JA17, Park JE18, Park JK19, Baek HJ7, Seo JH20, Shim YJ21, Ahn HS6, Yoo KH22, Yoon HS23, Won YW24, Lee KS11, Lee KC25, Lee MJ26, Lee SA27, Lee JA28, Lee JM29, Lee JH30, Lee JW22, Lim YT20, Jung HJ18, Chueh HW31, Choi EJ32, Jung HL33, Kim JH34, Lee DS35; Hereditary Hemolytic Anemia Working Party of the Kor
Orphanet J Rare Dis. 2019 May 23;14(1):114. doi: 10.1186/s13023-019-1070-0.
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