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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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Bibliographic Details
Published in:	Clinica chimica acta 2001-03, Vol.305 (1), p.197-200
Main Authors:	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
Format:	Article
Language:	English
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
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