Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation

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題名:	Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation
作者:	Lin, WD;Wu, JY;Hsu, HB;Tsai, FJ;Lee, CC;Tsai, CH
貢獻者:	附設醫院醫研部;China Med Coll Hosp, Dept Med Res, Taichung, Taiwan;China Med Coll Hosp, Dept Internal Med, Taichung, Taiwan;China Med Coll Hosp, Dept Med Genet, Taichung, Taiwan;China Med Coll Hosp, Dept Pediat, Taichung, Taiwan
日期:	2001
上傳時間:	2010-09-24 14:55:45 (UTC+8)
出版者:	EXCERPTA MEDICA ASIA LTD
摘要:	Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulphatase (arylsulfatase B, ASB). We report the clinical investigation and mutation analysis of two Taiwanese patients with severe (Case 1) and intermediate (Case 2) phenotypes of NIPS VI. Three missense mutations and one polymorphism were identified. Case 1 was found to have a novel heteroallelic C-to-G transversion at nucleotide 1197 causing a phenylalanine to leucine substitution at residue 399 (Phe399Leu), and a heteroallelic Gln239Arg mutation. In Case 2, a heterozygous Cys192Arg mutation and a Va1358Met polymorphism were identified. Among these three mutations, the Gln239Arg and Phe399Leu substitutions have so far been observed only in the Taiwanese population. The correlation between genotype and phenotype contributes to molecular pre- and post-natal diagnosis for MPS VI patients.
關聯:	JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION 100(12):817-819
顯示於類別:	[台中附設醫院] 期刊論文

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