Browsing "Journal Papers" by Journal : Human mutation

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Showing results 3 to 5 of 5

Pub YearTitleAuthor(s)
2015Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.손영배
1998Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.조성원, 한시훈
2000Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.한시훈
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