Literature DB >> 9146921

Mevalonate kinase map position 12q24.

K M Gibson1, G F Hoffmann, R D Tanaka, R W Bishop, K L Chambliss.   

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Year:  1997        PMID: 9146921     DOI: 10.1023/a:1018430527386

Source DB:  PubMed          Journal:  Chromosome Res        ISSN: 0967-3849            Impact factor:   5.239


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  4 in total

1.  Structure, 5'-flanking sequence, and chromosome location of the human N-formyl peptide receptor gene. A single-copy gene comprised of two exons on chromosome 19q.13.3 that yields two distinct transcripts by alternative polyadenylation.

Authors:  D L Haviland; A C Borel; D T Fleischer; J C Haviland; R A Wetsel
Journal:  Biochemistry       Date:  1993-04-27       Impact factor: 3.162

2.  Digitized and differentially shaded human chromosome ideograms for genomic applications.

Authors:  U Francke
Journal:  Cytogenet Cell Genet       Date:  1994

3.  Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

Authors:  B L Schafer; R W Bishop; V J Kratunis; S S Kalinowski; S T Mosley; K M Gibson; R D Tanaka
Journal:  J Biol Chem       Date:  1992-07-05       Impact factor: 5.157

4.  Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

Authors:  G F Hoffmann; C Charpentier; E Mayatepek; J Mancini; M Leichsenring; K M Gibson; P Divry; M Hrebicek; W Lehnert; K Sartor
Journal:  Pediatrics       Date:  1993-05       Impact factor: 7.124

  4 in total
  2 in total

1.  Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

Authors:  D Haas; P Niklowitz; F Hörster; E R Baumgartner; C Prasad; R J Rodenburg; G F Hoffmann; T Menke; J G Okun
Journal:  J Inherit Metab Dis       Date:  2009-06-07       Impact factor: 4.982

Review 2.  Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.

Authors:  Dorothea Haas; Georg F Hoffmann
Journal:  Orphanet J Rare Dis       Date:  2006-04-26       Impact factor: 4.123

  2 in total

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