Browsing "Medical Genetics" by Keyword : Amino Acid Sequence

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Showing results 1 to 5 of 5

Pub YearTitleAuthor(s)
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
2013Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.손영배
2010Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension.진현석
1998Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.김현주
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