Literature DB >> 8295402

Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients.

T Ohura1, K Narisawa, K Tada.   

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Year:  1993        PMID： 8295402     DOI： 10.1007/BF00714279

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


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  8 in total

1.  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

2.  An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

Authors:  T Tahara; J P Kraus; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1990-02       Impact factor: 11.205

3.  Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.

Authors:  P Chomczynski; N Sacchi
Journal:  Anal Biochem       Date:  1987-04       Impact factor: 3.365

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.  Isolation and characterization of propionyl-CoA carboxylase from normal human liver. Evidence for a protomeric tetramer of nonidentical subunits.

Authors:  F Kalousek; M D Darigo; L E Rosenberg
Journal:  J Biol Chem       Date:  1980-01-10       Impact factor: 5.157

6.  Two distinct mutations at the same site in the PCCB gene in propionic acidemia.

Authors:  A M Lamhonwah; C E Troxel; S Schuster; R A Gravel
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736

7.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

8.  Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.

Authors:  T Ohura; J P Kraus; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025
  8 in total
  4 in total

1.  A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.

Authors:  T Ohura; K Narisawa; K Tada; K Iinuma
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

2.  Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.

Authors:  C Pérez-Cerdá; P Rodríguez-Pombo; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

3.  Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

Authors:  P Rodríguez-Pombo; J Hoenicka; S Muro; B Pérez; C Pérez-Cerdá; E Richard; L R Desviat; M Ugarte
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

4.  Mutations participating in interallelic complementation in propionic acidemia.

Authors:  R A Gravel; B R Akerman; A M Lamhonwah; M Loyer; A Léon-del-Rio; I Italiano
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025
  4 in total

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