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Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency
scientific journal article
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instance of
scholarly article
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
title
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency
(English)
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
author name string
Y. Kikawa
series ordinal
1
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
M. Inuzuka
series ordinal
2
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
B. Y. Jin
series ordinal
3
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
S. Kaji
series ordinal
4
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
J. Koga
series ordinal
5
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
Y. Yamamoto
series ordinal
6
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
K. Fujisawa
series ordinal
7
1 reference
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PubMed
PubMed ID
9382095
retrieved
3 February 2017
I. Hata
series ordinal
8
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stated in
PubMed
PubMed ID
9382095
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3 February 2017
A. Nakai
series ordinal
9
1 reference
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PubMed
PubMed ID
9382095
retrieved
3 February 2017
Y. Shigematsu
series ordinal
10
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PubMed
PubMed ID
9382095
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3 February 2017
H. Mizunuma
series ordinal
11
1 reference
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PubMed
PubMed ID
9382095
retrieved
3 February 2017
A. Taketo
series ordinal
12
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
M. Mayumi
series ordinal
13
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
M. Sudo
series ordinal
14
1 reference
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PubMed
PubMed ID
9382095
retrieved
3 February 2017
language of work or name
English
0 references
publication date
1 October 1997
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
published in
American Journal of Human Genetics
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
volume
61
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
page(s)
852–861
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stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
issue
4
1 reference
stated in
PubMed
PubMed ID
9382095
retrieved
3 February 2017
cites work
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
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
17 March 2017
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
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
17 March 2017
Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
17 March 2017
cDNA sequence of rat liver fructose-1,6-bisphosphatase and evidence for down-regulation of its mRNA by insulin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
17 March 2017
Structure refinement of fructose-1,6-bisphosphatase and its fructose 2,6-bisphosphate complex at 2.8 A resolution
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
17 March 2017
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
7 April 2017
Urinary sugar phosphates and related organic acids in fructose-1,6-diphosphatase deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
3 June 2018
Allosteric transition of fructose-1,6-bisphosphatase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
3 June 2018
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
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
3 June 2018
Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
3 June 2018
Biochemical observations on a case of hepatic fructose-1,6-diphosphatase deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
3 June 2018
Characterization of rat muscle fructose 1,6-bisphosphatase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
3 June 2018
Investigation of inborn errors of metabolism in unexpected infant deaths
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
3 June 2018
Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
3 June 2018
Site-directed mutagenesis of virtually any plasmid by eliminating a unique site
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
3 June 2018
Deficiency of Glucose-6-Phosphate Dehydrogenase found in a Case of Hepatic Fructose-1,6-Diphosphatase Deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
3 June 2018
Activity of Fructose-1,6-Diphosphatase in Human Leukocytes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
3 June 2018
Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
27 November 2018
Characterization of the gene for fructose-1,6-bisphosphatase from Saccharomyces cerevisiae and Schizosaccharomyces pombe. Sequence, protein homology, and expression during growth on glucose.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
27 November 2018
Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715983
retrieved
27 November 2018
Detection of heterozygotes for fructose-1,6-diphosphatase deficiency by measuring fructose-1,6-diphosphatase activity in monocytes cultured with calcitriol
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9382095
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Detection of heterozygotes for fructose 1,6-diphosphatase deficiency by measuring fructose 1,6-diphosphatase activity in their cultured peripheral lymphocytes
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9382095
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mechanisms of insertional mutagenesis in human genes causing genetic disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9382095
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Fructose and glucagon loading in siblings with fructose-1,6-diphosphatase deficiency in fed state
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9382095
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9382095
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9382095
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1086/514875
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2169957
OpenCitations bibliographic resource ID
2169957
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2169957
PMCID
1715983
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2169957
PubMed ID
9382095
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2169957
ResearchGate publication ID
13848090
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