(Q35882245)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940271%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

High prevalence of a mutation in the cystathionine beta-synthase gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940271%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

author name string

Tsai MY

1

1 reference

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21 October 2019

Bignell M

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940271%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Schwichtenberg K

3

1 reference

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21 October 2019

Hanson NQ

4

1 reference

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21 October 2019

language of work or name

English

0 references

publication date

1 December 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940271%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

21 October 2019

published in

1 reference

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21 October 2019

volume

59

1 reference

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21 October 2019

issue

6

1 reference

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21 October 2019

page(s)

1262-1267

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940271%20AND%20SRC:MED&resulttype=core&format=json

Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.

21 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

Komrower Lecture. Molecular basis of phenotype expression in homocystinuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

Association between Plasma Homocysteine Concentrations and Extracranial Carotid-Artery Stenosis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914870

Simultaneous detection and screening of T833C and G919A mutations of the cystathionine β-synthase gene by single-strand conformational polymorphism

14 November 2018

1 reference

12 December 2020

Hyperhomocysteinemia: an independent risk factor for vascular disease

1 reference

12 December 2020

A prospective study of plasma homocyst(e)ine and risk of myocardial infarction in US physicians

1 reference

12 December 2020

A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding

1 reference

12 December 2020

Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940271%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

PubMed publication ID

8940271

1 reference