Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 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.

Literature DB >> 9686364

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.

Y S Shin¹, H G Koch, M Köhler, G Hoffmann, A Patsoura, T Podskarbi.

Abstract

Entities: Gene Mutation

Mesh：

Substances：

Year: 1998 PMID： 9686364 DOI： 10.1023/a:1005303818858

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

× No keyword cloud information.

4 in total

1. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

Authors: S Greber-Platzer; P Guldberg; S Scheibenreiter; C Item; E Schuller; N Patel; W Strobl
Journal: Hum Mutat Date: 1997 Impact factor: 4.878

2. Molecular basis for Duarte and Los Angeles variant galactosemia.

Authors: S D Langley; K Lai; P P Dembure; L N Hjelm; L J Elsas
Journal: Am J Hum Genet Date: 1997-02 Impact factor: 11.025

3. Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

Authors: T Podskarbi; T Kohlmetz; B S Gathof; B Kleinlein; W P Bieger; U Gresser; Y S Shin
Journal: J Inherit Metab Dis Date: 1996 Impact factor: 4.982

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

Authors: Y S Shin; H P Niedermeier; W Endres; J Schaub; S Weidinger
Journal: Clin Chim Acta Date: 1987-06-30 Impact factor: 3.786

4 in total

5 in total

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.

1. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

2. Molecular basis for Duarte and Los Angeles variant galactosemia.

3. Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

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

1. Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.

2. Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.

3. Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.

4. Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.

5. Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.