Mutational Study of ATP7B in Wilson Disease : Establishing an Effective DNA-based Diagnostic Protocol for Hong Kong Chinese
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概要
- 論文の詳細を見る
- 2007-10-23
著者
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TAM Sidney
Division of Cardiology, Queen Mary Hospital, University of Hong Kong
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Tam Sidney
Division Of Clinical Biochemistry Queen Mary Hospital
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Lam Ching-wan
Department Of Chemical Pathology The Chinese University Of Hong Kong Prince Of Wales Hospital
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Lam Ching-wan
Department Of Chemical Pathology Prince Of Wales Hospital The Chinese University Of Hong Kong
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Tam Sidney
Division Of Cardiology Queen Mary Hospital University Of Hong Kong
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Mak Chloe
Division Of Clinical Biochemistry Queen Mary Hospital
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- Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese : Identification of 17 novel mutations and its genetic heterogeneity
- Mutational Study of ATP7B in Wilson Disease : Establishing an Effective DNA-based Diagnostic Protocol for Hong Kong Chinese
- DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray : standardization of molecular investigations of genetic diseases due to consanguinity
- Functional deficiencies of sulfite oxidase : Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia
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