Literature DB >> 10518292

Mutation analysis of the propionyl-CoA carboxylase alpha-subunit gene in four Japanese patients with propionic acidaemia.

T Ohura1, K Narisawa, K Iinuma.   

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Year:  1999        PMID： 10518292     DOI： 10.1023/a:1005578612668

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


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  4 in total

1.  The gene encoding the biotin carboxylase subunit of Escherichia coli acetyl-CoA carboxylase.

Authors:  S J Li; J E Cronan
Journal:  J Biol Chem       Date:  1992-01-15       Impact factor: 5.157

2.  Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.

Authors:  T Ohura; S Miyabayashi; K Narisawa; K Tada
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

3.  Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.

Authors:  E Richard; L R Desviat; B Pérez; C Pérez-Cerdá; M Ugarte
Journal:  Hum Genet       Date:  1997-11       Impact factor: 4.132

4.  Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.

Authors:  E Campeau; L Dupuis; D Leclerc; R A Gravel
Journal:  Hum Mol Genet       Date:  1999-01       Impact factor: 6.150
  4 in total

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