(Q28241304)

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Komrower Lecture. Molecular basis of phenotype expression in homocystinuria

scientific article (publication date: 1994)

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title

Komrower Lecture. Molecular basis of phenotype expression in homocystinuria (English)

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J P Kraus

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language of work or name

English

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publication date

1994

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published in

Journal of Inherited Metabolic Disease

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volume

17

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issue

4

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page(s)

383-90

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cites work

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystathionine beta-synthase from human liver: improved purification scheme and additional characterization of the enzyme in crude and pure form

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis and proteolytic activation of cystathionine beta-synthase in rat liver

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of human cystathionine beta-synthase in Escherichia coli: purification and characterization.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

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Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular defect in a patient with pyridoxine-responsive homocystinuria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rat cystathionine beta-synthase: expression of four alternatively spliced isoforms in transfected cultured cells

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rat cystathionine beta-synthase. Gene organization and alternative splicing

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7967489

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PubMed publication ID

7967489

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(Q28241304)

Komrower Lecture. Molecular basis of phenotype expression in homocystinuria

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