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-Reference-Cited by-同舟云学术

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

Published:1998-06 Issue:3 Volume:21 Page:232-235
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

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

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005303818858/fullpdf

Reference7 articles.

1. Molecular heterogeneity of classical and Duarte galactosaemia: mutation analysis by denaturing gradient gel electrophoresis;Greber-Platzer;Hum Mutat,1997

2. Hirokawa H Okano Y Ashino J Imamura T Suyama I Isshiki G 1997 Molecular characterization of galactosaemia mutations (type I) in Japanese Proc 7th Int Congr Inborn Error Metab,

3. Molecular basis for Duarte and Los Angeles variant galactosaemia;Langley;Am J Hum Genet,1997

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3. Detection of common mutations in the GALT gene through ARMS;Gene;2012-11

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5. Frequencies of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Hungarian population;Orvosi Hetilap;2009-07-01