Browsing "Medical Genetics" by Keyword : Molecular Sequence Data

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Showing results 1 to 9 of 9

Pub YearTitleAuthor(s)
2012A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene손영배
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
2015Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.손영배
2012Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency김옥화, 손영배
2014First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.손영배
2013Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.손영배
2010Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension.진현석
2010Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.고정민
1998Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.김현주
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