(Q44070460)

29 November 2017

title

Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency (English)

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29 November 2017

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Toshinobu Matsuura

1

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29 November 2017

Yasutsugu Chinen

2

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29 November 2017

Rina Arashiro

3

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29 November 2017

Keisuke Katsuren

4

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29 November 2017

Toshiya Tamura

5

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29 November 2017

Nobuyuki Hyakuna

6

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29 November 2017

Takao Ohta

7

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29 November 2017

publication date

1 July 2002

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Molecular Genetics and Metabolism

29 November 2017

published in

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29 November 2017

volume

76

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29 November 2017

issue

3

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29 November 2017

page(s)

207-210

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Rabbit liver fructose 1,6-diphosphatase. Properties of the native enzyme and their modification by subtilisin

29 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

Crystal structure of fructose-1,6-bisphosphatase complexed with fructose 6-phosphate, AMP, and magnesium

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

Biochemical properties of mutant and wild-type fructose-1,6-bisphosphatases are consistent with the coupling of intra- and intersubunit conformational changes in the T- and R-state transition

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

Novel mutations in patients with fructose-1,6-bisphosphatase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900038-0

7 January 2021

10.1016/S1096-7192(02)00038-0

Identifiers

DOI

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29 November 2017

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