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아주대학교 의학문헌정보센터
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Browsing "Medical Genetics" by Keyword : Amino Acid Substitution
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Showing results 1 to 5 of 5
Pub Year
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2010
Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
김유찬
,
김현주
,
정선용
,
정연훈
2014
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
손영배
2015
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
손영배
2016
Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls
권은별
,
이해상
,
정선용
,
황진순
2019
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia
손영배
1
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아주대학교 의학문헌정보센터
