(Q24673176)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

0 references

1 reference

Sebastio G

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Sperandeo MP

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Panico M

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

de Franchis R

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Kraus JP

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Andria G

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

language of work or name

English

0 references

publication date

1 June 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

25 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

issue

6

1 reference

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25 October 2019

page(s)

1324-1333

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein

25 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

DNA sequencing with chain-terminating inhibitors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

Molecular defect in a patient with pyridoxine-responsive homocystinuria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

Komrower Lecture. Molecular basis of phenotype expression in homocystinuria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

Rat cystathionine beta-synthase. Gene organization and alternative splicing

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801112

Hyperhomocysteinemia: an independent risk factor for vascular disease

30 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7762555

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762555%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

PubMed publication ID

7762555

1 reference