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Novel splicing mutation of the PPOX gene (IVS10+1G→A) detected by denaturing high-performance liquid chromatography
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Published in: | Clinica chimica acta 2001-03, Vol.305 (1), p.197-200 |
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container_title | Clinica chimica acta |
container_volume | 305 |
creator | Lam, Ching-Wan Hui, Ka-Ning Poon, Priscilla Miu-Kuen Luk, Nai-Ming Yuen, Yuet-Ping Tong, Sui-Fan Lai, Chi-Kong Chan, Yan-Wo Lo, Kuen-Kong |
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doi_str_mv | 10.1016/S0009-8981(01)00382-5 |
format | article |
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source | Elsevier |
subjects | Adult Base Sequence Biological and medical sciences Chromatography, High Pressure Liquid - methods Denaturing high-performance liquid chromatography DNA Exons Female Flavoproteins Humans Introns Investigative techniques, diagnostic techniques (general aspects) Medical sciences Metabolic diseases Mitochondrial Proteins Mutation Mutation detection Other metabolic disorders Oxidoreductases - genetics Oxidoreductases Acting on CH-CH Group Donors Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Pigments (porphyrias, hyperbilirubinemias...) PPOX gene Protein Denaturation Protoporphyrinogen Oxidase RNA Splicing Variegate porphyria |
title | Novel splicing mutation of the PPOX gene (IVS10+1G→A) detected by denaturing high-performance liquid chromatography |
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