8 results on '"Hsiao, Kwang-Jen"'
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2. A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria
3. Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency
4. Absence of FMR-1 gene expression can be detected with RNA extracted from dried blood specimens
5. Identification of a missense phenylketonuria mutation at codon 408 in Chinese
6. Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene
7. Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians
8. Study of restriction fragment length polymorphisms at the human phenylalamine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese
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