Literature DB >> 7671954

The frequency of MCAD mutation (K329E) in the Finnish population.

E I Schwartz, J Ilonen, N A Skobeleva, H K Akerblom.   

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Year:  1995        PMID： 7671954     DOI： 10.1007/bf02029369

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  7 in total

1.  Frequency of the G985 MCAD mutation in the general population.

Authors:  A I Blakemore; H Singleton; R J Pollitt; P C Engel; S Kolvraa; N Gregersen; D Curtis
Journal:  Lancet       Date:  1991-02-02       Impact factor: 79.321

2.  Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  Y Matsubara; K Narisawa; S Miyabayashi; K Tada; P M Coates
Journal:  Lancet       Date:  1990-06-30       Impact factor: 79.321

3.  Fatal familial steatosis of the liver and kidney in two siblings.

Authors:  O Räsänen; M Korhonen; S Similä; T Autere; J Hakosalo
Journal:  Z Kinderheilkd       Date:  1971

4.  Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  Y Matsubara; K Narisawa; S Miyabayashi; K Tada; P M Coates; C Bachmann; L J Elsas; R J Pollitt; W J Rhead; C R Roe
Journal:  Biochem Biophys Res Commun       Date:  1990-08-31       Impact factor: 3.575

5.  Nonketotic C6-C10-dicarboxylic aciduria presenting as familial hepatic steatosis.

Authors:  S Similä; L von Wendt; J Ruostesuo; N Gregerson
Journal:  Am J Med Genet       Date:  1984-07

6.  Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.

Authors:  Y Matsubara; K Narisawa; K Tada; H Ikeda; Y Q Yao; D M Danks; A Green; E R McCabe
Journal:  Lancet       Date:  1991-08-31       Impact factor: 79.321

7.  Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1.

Authors:  Y Matsubara; J P Kraus; T L Yang-Feng; U Francke; L E Rosenberg; K Tanaka
Journal:  Proc Natl Acad Sci U S A       Date:  1986-09       Impact factor: 11.205
  7 in total
  1 in total

1.  The frequency of medium-chain acyl-CoA dehydrogenase G985 mutation in the Hungarian population.

Authors:  C Szalai; A Czinner; K Revai
Journal:  Eur J Pediatr       Date:  1996-03       Impact factor: 3.183
  1 in total

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