The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.

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The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.

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2017 nî lūn-bûn

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The c.797 G>A (p.R266K) cystat ...... y affecting protein stability.

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The c.797 G>A

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The c.797 G>A (p.R266K) cystat ...... y affecting protein stability.

@en

The c.797 G>A

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The c.797 G>A (p.R266K) cystat ...... y affecting protein stability.

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The c.797 G>A

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P1476

The c.797 G>A (p.R266K) cystat ...... y affecting protein stability.

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P2093

Liqun Wang

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Sapna Gupta

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P2860

A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Adapting proteostasis for disease intervention

Cystathionine beta-synthase mutations in homocystinuria

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

Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region

The role of cystathionine beta-synthase in homocysteine metabolism

Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits

Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia

Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.

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863-869

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scholarly article

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10.1002/HUMU.23240

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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Warren D Kruger

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2017-05-22T00:00:00Z

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28488385

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5525156

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