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아주대학교 의학문헌정보센터
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Browsing "Journal Papers" by Journal : Human mutation
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Showing results 1 to 5 of 5
Pub Year
Title
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2000
A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
한시훈
1995
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
한시훈
2015
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
손영배
1998
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
조성원
,
한시훈
2000
Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.
한시훈
1
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아주대학교 의학문헌정보센터
