Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells.

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作者信息

Shin Y S, Koch H G, Köhler M, Hoffmann G, Patsoura A, Podskarbi T

机构信息

University Children's Hospital, Munich, Germany.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):232-5. doi: 10.1023/a:1005303818858.

DOI:10.1023/a:1005303818858

PMID:9686364

Abstract

摘要

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本文引用的文献

Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.经典型和杜氏半乳糖血症的分子异质性：通过变性梯度凝胶电泳进行突变分析

Hum Mutat. 1997;10(1):49-57. doi: 10.1002/(SICI)1098-1004(1997)10:1<49::AID-HUMU7>3.0.CO;2-H.

Molecular basis for Duarte and Los Angeles variant galactosemia.杜阿尔特和洛杉矶变异型半乳糖血症的分子基础。

Am J Hum Genet. 1997 Feb;60(2):366-72.

Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.1-磷酸半乳糖尿苷转移酶的杜阿尔特-1和杜阿尔特-2变体的分子特征

J Inherit Metab Dis. 1996;19(5):638-44. doi: 10.1007/BF01799840.

Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase. Developmental aspect of UDP-galactose pyrophosphorylase.

Clin Chim Acta. 1987 Jun 30;166(1):27-35. doi: 10.1016/0009-8981(87)90191-4.

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