(Q71937495)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627195%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627195%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7627195

19 June 2024

author name string

R. L. Touraine

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7627195

19 June 2024

M. O. Rolland

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7627195

19 June 2024

P. Divry

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7627195

19 June 2024

M. Mathieu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7627195

19 June 2024

P. Guibaud

5

1 reference

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19 June 2024

D. Bozon

6

1 reference

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19 June 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7627195

19 June 2024

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627195%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

22 October 2019

https://doi.org/10.1002/humu.1380050417

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7627195

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1380050417

19 June 2024

1 reference

DOI

10.1002/HUMU.1380050417

https://api.crossref.org/works/10.1002/HUMU.1380050417

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.1380050417

19 June 2024

1 reference

DOI

10.1002/HUMU.1380050417

https://api.crossref.org/works/10.1002/HUMU.1380050417

19 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627195%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627195%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627195%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

page(s)

354-356

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627195%20AND%20SRC:MED&resulttype=core&format=json

Expression of recombinant human methylmalonyl-CoA mutase: in primary mut fibroblasts and Saccharomyces cerevisiae

22 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Premature translation termination mediates triosephosphate isomerase mRNA degradation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

A rapid method for the purification of DNA from blood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Structure of the human methylmalonyl-CoA mutase (MUT) locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Primary structure and activity of mouse methylmalonyl-CoA mutase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050417

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050417

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627195%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference