Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency (Q28637945)

3 February 2017

title

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency (English)

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3 February 2017

Y. Kikawa

1

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3 February 2017

M. Inuzuka

2

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3 February 2017

B. Y. Jin

3

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3 February 2017

S. Kaji

4

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3 February 2017

J. Koga

5

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3 February 2017

Y. Yamamoto

6

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3 February 2017

K. Fujisawa

7

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3 February 2017

I. Hata

8

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3 February 2017

A. Nakai

9

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3 February 2017

Y. Shigematsu

10

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3 February 2017

H. Mizunuma

11

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3 February 2017

A. Taketo

12

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3 February 2017

M. Mayumi

13

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3 February 2017

M. Sudo

14

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3 February 2017

language of work or name

English

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publication date

1 October 1997

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American Journal of Human Genetics

3 February 2017

published in

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3 February 2017

volume

61

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3 February 2017

issue

4

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3 February 2017

page(s)

852–861

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Isolation of a human liver fructose-1,6-bisphosphatase cDNA and expression of the protein in Escherichia coli. Role of ASP-118 and ASP-121 in catalysis

3 February 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency

17 March 2017

1 reference

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Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

cDNA sequence of rat liver fructose-1,6-bisphosphatase and evidence for down-regulation of its mRNA by insulin

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Structure refinement of fructose-1,6-bisphosphatase and its fructose 2,6-bisphosphate complex at 2.8 A resolution

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Urinary sugar phosphates and related organic acids in fructose-1,6-diphosphatase deficiency

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Allosteric transition of fructose-1,6-bisphosphatase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

cDNA sequences encoding human fructose 1,6-bisphosphatase from monocytes, liver and kidney: application of monocytes to molecular analysis of human fructose 1,6-bisphosphatase deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Biochemical observations on a case of hepatic fructose-1,6-diphosphatase deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Characterization of rat muscle fructose 1,6-bisphosphatase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Investigation of inborn errors of metabolism in unexpected infant deaths

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Site-directed mutagenesis of virtually any plasmid by eliminating a unique site

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Deficiency of Glucose-6-Phosphate Dehydrogenase found in a Case of Hepatic Fructose-1,6-Diphosphatase Deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Activity of Fructose-1,6-Diphosphatase in Human Leukocytes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Characterization of the gene for fructose-1,6-bisphosphatase from Saccharomyces cerevisiae and Schizosaccharomyces pombe. Sequence, protein homology, and expression during growth on glucose.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983

Detection of heterozygotes for fructose-1,6-diphosphatase deficiency by measuring fructose-1,6-diphosphatase activity in monocytes cultured with calcitriol

27 November 2018

1 reference

12 December 2020

Detection of heterozygotes for fructose 1,6-diphosphatase deficiency by measuring fructose 1,6-diphosphatase activity in their cultured peripheral lymphocytes

1 reference

12 December 2020

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

12 December 2020

Fructose and glucagon loading in siblings with fructose-1,6-diphosphatase deficiency in fed state

1 reference

12 December 2020

Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients

1 reference

12 December 2020

Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity

1 reference

12 December 2020

Identifiers

DOI

10.1086/514875

1 reference

1 reference

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