Literature DB >> 7564245

Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency.

B Goebel-Schreiner1, R Schreiner, G F Hoffmann, K M Gibson.   

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Year:  1995        PMID： 7564245     DOI： 10.1007/BF00711765

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

1.  Hybridization of genomic DNA to oligonucleotide probes in the presence of tetramethylammonium chloride.

Authors:  A G DiLella; S L Woo
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

2.  Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria.

Authors:  K M Gibson; J L Lohr; R L Broock; G Hoffmann; W L Nyhan; L Sweetman; I K Brandt; R S Wappner; P I Bader
Journal:  Enzyme       Date:  1989

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

5.  Mevalonate kinase is localized in rat liver peroxisomes.

Authors:  K D Stamellos; J E Shackelford; R D Tanaka; S K Krisans
Journal:  J Biol Chem       Date:  1992-03-15       Impact factor: 5.157

6.  Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficiency disorders.

Authors:  L Biardi; A Sreedhar; A Zokaei; N B Vartak; R L Bozeat; J E Shackelford; G A Keller; S K Krisans
Journal:  J Biol Chem       Date:  1994-01-14       Impact factor: 5.157
  6 in total
  1 in total

1.  Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

Authors:  D D Hinson; R M Ross; S Krisans; J L Shaw; V Kozich; M O Rolland; P Divry; J Mancini; G F Hoffmann; K M Gibson
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025
  1 in total

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