A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians (Q28357330)

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5 November 2019

case report

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title

A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians (English)

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5 November 2019

10

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author name string

Okano Y

1

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Asada M

2

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Fujimoto A

3

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Ohtake A

4

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Murayama K

5

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Hsiao KJ

6

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Choeh K

7

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Yang Y

8

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Cao Q

9

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Niihira S

11

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Imamura T

12

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Yamano T

13

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language of work or name

English

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publication date

23 February 2001

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American Journal of Human Genetics

5 November 2019

published in

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volume

68

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issue

4

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page(s)

1036-1042

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Molecular characterization of galactokinase deficiency in Japanese patients

5 November 2019

cites work

1 reference

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A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)

20 March 2017

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Fine structure of the human galactokinase GALK1 gene

20 March 2017

1 reference

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A common mutation associated with the Duarte galactosemia allele

20 March 2017

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Cloning and characterization of ERG8, an essential gene of Saccharomyces cerevisiae that encodes phosphomevalonate kinase

20 March 2017

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

20 March 2017

1 reference

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Molecular characterization of galactosemia (type 1) mutations in Japanese.

29 September 2017

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Gene organization and structure of the Streptomyces lividans gal operon

29 September 2017

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Structure of the galactokinase gene of Escherichia coli, the last (?) gene of the gal operon

29 September 2017

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Racial differences in the cause-specific prevalence of blindness in east Baltimore

29 September 2017

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Lactose and cataract in humans: a review

29 September 2017

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The Philadelphia variant of galactokinase

29 September 2017

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The Framingham Eye Study. II. Association of ophthalmic pathology with single variables previously measured in the Framingham Heart Study

29 September 2017

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A simple assay for galactokinase using deae-cellulose column chromatography

29 September 2017

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Novel mutations in 13 probands with galactokinase deficiency.

29 September 2017

1 reference

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Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts

2 June 2018

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A geographic approach to senile cataracts: possible links with milk consumption, lactase activity, and galactose metabolism

2 June 2018

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Galactokinase: Evidence for a New Racial Polymorphism

2 June 2018

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Outcome of the patients detected by newborn screening in Japan.

2 June 2018

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Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients

20 June 2018

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Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child

27 November 2018

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Cataract survey in the local area using photographic documentation.

27 November 2018

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Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins

27 November 2018

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12 December 2020

Presenile cataract formation and decreased activity of galactosemic enzymes

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12 December 2020

A new variant of galactokinase

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12 December 2020

Cataracts in patients heterozygous for galactokinase deficiency

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12 December 2020

Cataract formation in patients with lactose and galactose disorders

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12 December 2020

Does milk have a cataractogenic effect. A weighing of clinical evidence

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12 December 2020

Galactokinase activity in patients with idiopathic presenile and senile cataract

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12 December 2020

High frequency of lactose absorbers among adults with idiopathic senile and presenile cataract in a population with a high prevalence of primary adult lactose malabsorption

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12 December 2020

Disturbed galactose metabolism in elderly and diabetic humans is associated with cataract formation

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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

Identifiers

DOI

10.1086/319512

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231902%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231902%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

11231902

1 reference