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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.

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

1
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.
2
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.
3
Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
1-磷酸半乳糖尿苷酰转移酶的杜阿尔特-2（D2）等位基因的起源、分布及表达
Hum Mol Genet. 2009 May 1;18(9):1624-32. doi: 10.1093/hmg/ddp080. Epub 2009 Feb 18.
4
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.由于编码犬尿氨酸酶的KYNU发生突变导致的黄尿酸尿症。
J Inherit Metab Dis. 2007 Apr;30(2):248-55. doi: 10.1007/s10545-007-0396-2. Epub 2007 Mar 1.
5
Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.
J Inherit Metab Dis. 1999 May;22(3):327-9. doi: 10.1023/a:1005516523196.
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.
4
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.