Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase (Q38363170)

2 September 2017

title

Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase (English)

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2 September 2017

T Podskarbi

1

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2 September 2017

T Kohlmetz

2

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2 September 2017

B S Gathof

3

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2 September 2017

B Kleinlein

4

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2 September 2017

W P Bieger

5

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2 September 2017

U Gresser

6

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2 September 2017

Y S Shin

7

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2 September 2017

publication date

1 January 1996

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Journal of Inherited Metabolic Disease

2 September 2017

published in

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2 September 2017

volume

19

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2 September 2017

issue

5

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2 September 2017

page(s)

638-644

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https://scigraph.springernature.com/pub.10.1007/bf01799840

2 September 2017

exact match

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cites work

A common mutation associated with the Duarte galactosemia allele

1 reference

12 December 2020

Transferase-deficiency galactosemia: Immunochemical studies of the Duarte and Los Angeles variants

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12 December 2020

The genetics of galactose-1-phosphate uridyl transferase deficiency

1 reference

12 December 2020

A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant

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12 December 2020

Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany

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12 December 2020

On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

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12 December 2020

DNA sequencing with chain-terminating inhibitors

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12 December 2020

Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.

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12 December 2020

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

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12 December 2020

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase

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12 December 2020

Improved technique for electrophoresis of human galactose-1-P uridyl transferase (EC 2.7.7.12)

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12 December 2020

Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations

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12 December 2020

Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia

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12 December 2020

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

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12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799840

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Dimensions Publication ID

2 September 2017

1028071021

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