Browsing "Medical Genetics" by Keyword : Exons

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Showing results 1 to 7 of 7

Pub YearTitleAJOU Author(s)
2000Assignment of the kinesin family member 4 genes (KIF4A and KIF4B) to human chromosome bands Xq13.1 and 5q33.1 by in situ hybridization.김완기, 김현주, 이영미, 하만준
2013Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.손영배
2019Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis손영배, 장주영
2010KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect.고정민, 황진순
2012Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism김현주, 정선용
1998Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.김현주
2010The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome.고정민
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