(Q35197051)

7 August 2017

title

Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance (English)

1 reference

ORCID Public Data File 2021

7 August 2017

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author name string

C C Brooks

1

1 reference

7 August 2017

N Buist

2

1 reference

7 August 2017

J Tuerck

3

1 reference

7 August 2017

D R Tolan

4

1 reference

7 August 2017

language of work or name

English

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publication date

1 November 1991

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

49

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7 August 2017

issue

5

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7 August 2017

page(s)

1075-1081

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The complete amino Acid sequence for the anaerobically induced aldolase from maize derived from cDNA clones.

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

A catalogue of splice junction sequences

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Structural intermediates of deletion mutagenesis: a role for palindromic DNA

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Spot-blot analysis of sorted chromosomes assigns a fructose intolerance disease locus to chromosome 9.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Sequence-directed mutagenesis: evidence from a phylogenetic history of human alpha-interferon genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

The complete amino acid sequence of the human aldolase C isozyme derived from genomic clones

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Characterization of the human aldolase B gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

High-resolution analysis of the human HLA-DR polymorphism by hybridization with sequence-specific oligonucleotide probes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

The structural gene for aldolase B (ALDB) maps to 9q13----32

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Splicing of messenger RNA precursors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Partial aldolase B gene deletions in hereditary fructose intolerance

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Molecular evidence for compound heterozygosity in hereditary fructose intolerance

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Molecular analysis of aldolase B genes in hereditary fructose intolerance

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Characterization of a splicing mutation in group A xeroderma pigmentosum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Hereditary fructose intolerance: A difficult diagnosis in the adult

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Fatal sorbitol infusion in patient with fructose-sorbitol intolerance

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683262

Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion

13 July 2018

1 reference

12 December 2020

Beta-thalassemia syndromes

1 reference

12 December 2020

[Anomaly of hepatic aldolase in intolerance to fructose.]

1 reference

12 December 2020

IDIOSYNCRASY TO FRUCTOSE

1 reference

12 December 2020

Identifiers

PMC publication ID

1683262

1 reference

7 August 2017

1 reference