Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method. (Q48030087)

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2 December 2019

title

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

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2 December 2019

7

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2 December 2019

Ole Kudsk Jensen

3

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2 December 2019

author name string

M Gaustadnes

1

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2 December 2019

L A Kluijtmans

2

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2 December 2019

K Rasmussen

4

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2 December 2019

S G Heil

5

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2 December 2019

J P Kraus

6

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2 December 2019

J Ingerslev

8

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2 December 2019

N Rüdiger

9

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2 December 2019

language of work or name

English

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publication date

1 July 1998

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2 December 2019

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2 December 2019

volume

431

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2 December 2019

issue

2

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2 December 2019

page(s)

175-179

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

2 December 2019

cites work

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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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

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Molecular basis of phenotype expression in homocystinuria

21 January 2018

1 reference

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

21 January 2018

1 reference

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Heterozygosity for Homocystinuria in Premature Peripheral and Cerebral Occlusive Arterial Disease

21 January 2018

1 reference

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10.1016/S0014-5793(98)00743-1

21 January 2018

Identifiers

DOI

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2 December 2019

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