A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia.

Lee, Hencher H C; Lee, Robert S Y; Lai, C K; Yuen, Y P; Siu, T S; Chan, Albert Y W; Lam, C W

Lee, Hencher H C; Lee, Robert S Y; Lai, C K; Yuen, Y P; Siu, T S; Chan, Albert Y W; Lam, C W.

Affiliation

Lee HH; Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong.

Hong Kong Med J ; 16(3): 219-22, 2010 Jun.

Article in En | MEDLINE | ID: mdl-20519759

Subject(s)

Amino Acid Metabolism, Inborn Errors/genetics; DNA Polymerase I/genetics; Isovaleryl-CoA Dehydrogenase/genetics; Mutation, Missense/genetics; Amino Acid Metabolism, Inborn Errors/enzymology; Founder Effect; Hemiterpenes; Humans; Infant, Newborn; Male; Pentanoic Acids; Tandem Mass Spectrometry

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Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / DNA Polymerase I / Isovaleryl-CoA Dehydrogenase / Amino Acid Metabolism, Inborn Errors Type of study: Screening_studies Limits: Humans / Male / Newborn Language: En Journal: Hong Kong Med J Journal subject: MEDICINA Year: 2010 Type: Article Affiliation country: Hong Kong

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