Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria (Q42809549)

7 November 2017

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria (English)

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7 November 2017

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8

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7 November 2017

Sook-Jin Lee

1

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7 November 2017

Dong Hwan Lee

2

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7 November 2017

Han-Wook Yoo

3

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7 November 2017

Soo Kyung Koo

4

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7 November 2017

Eun-Sook Park

5

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7 November 2017

Joo-Won Park

6

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7 November 2017

Hun Gil Lim

7

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7 November 2017

5 October 2005

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Journal of Human Genetics

7 November 2017

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7 November 2017

50

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7 November 2017

12

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7 November 2017

648-654

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https://scigraph.springernature.com/pub.10.1007/s10038-005-0312-2

7 November 2017

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12 December 2020

The upstream sequence of Mycobacterium leprae 18-kDa gene confers transcription repression activity in orientation-independent manner

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12 December 2020

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

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12 December 2020

Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs

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12 December 2020

Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations

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12 December 2020

Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases

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12 December 2020

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

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12 December 2020

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

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12 December 2020

Correction of disease-causing CBS mutations in yeast

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12 December 2020

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

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12 December 2020

Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.

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12 December 2020

Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period

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12 December 2020

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment

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12 December 2020

Newborn screening for homocystinuria: Irish and world experience

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12 December 2020

Prevalence of congenital homocystinuria in Denmark.

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12 December 2020

Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period

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12 December 2020

Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan

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12 December 2020

Komrower Lecture. Molecular basis of phenotype expression in homocystinuria

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12 December 2020

The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.

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12 December 2020

The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17

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12 December 2020

Yeast cystathionine beta-synthase is a pyridoxal phosphate enzyme but, unlike the human enzyme, is not a heme protein

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12 December 2020

Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype

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12 December 2020

Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype

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12 December 2020

Cystathionine beta-synthase mutations in homocystinuria

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12 December 2020

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

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12 December 2020

10.1007/S10038-005-0312-2

Identifiers

DOI

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7 November 2017

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