Browsing by Keyword : *Mutation, Missense

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Showing results 1 to 6 of 6

Publication YearTitleAJOU
Author
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.정선용김현주김옥화
2013Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.손영배
2014Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.손영배
2014Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy김옥화
2010Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.황진순김성환
2011Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.김옥화
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