(Q48030087)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

title

Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

Ole Kudsk Jensen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

author name string

M Gaustadnes

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

L A Kluijtmans

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

K Rasmussen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

S G Heil

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

J P Kraus

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

J Ingerslev

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

N Rüdiger

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

language of work or name

English

0 references

publication date

1 July 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

volume

431

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

page(s)

175-179

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells

2 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

Hyperhomocyst(e)inemia as a risk factor for occlusive vascular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

The natural history of vascular disease in homocystinuria and the effects of treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

Molecular basis of phenotype expression in homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

Heterozygosity for Homocystinuria in Premature Peripheral and Cerebral Occlusive Arterial Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900743-1

10.1016/S0014-5793(98)00743-1

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9708897%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

1 reference