(Q47948545)

English

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

scientific article published in August 1999

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

1 reference

based on heuristic

inferred from title

mevalonic aciduria

1 reference

based on heuristic

inferred from title

Sander M. Houten

1

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

author name string

Romeijn GJ

2

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

Koster J

3

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

Gray RG

4

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

Darbyshire P

5

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

Smit GP

6

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

de Klerk JB

7

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

Duran M

8

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

Gibson KM

9

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

Wanders RJ

10

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

Waterham HR

11

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

publication date

1 August 1999

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

8

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

8

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

1523-1528

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

Disorders of cholesterol biosynthesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Identification and functional characterization of an active-site lysine in mevalonate kinase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Protein translocation into peroxisomes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Identification of catalytic residues in human mevalonate kinase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Molecular analysis of the yeast VPS3 gene and the role of its product in vacuolar protein sorting and vacuolar segregation during the cell cycle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Electroblotting of multiple gels: a simple apparatus without buffer tank for rapid transfer of proteins from polyacrylamide to nitrocellulose

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1523

21 January 2018

Identifiers

10.1093/HMG/8.8.1523

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10401001

ResearchGate publication ID

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