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5 in total

1. 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

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

Authors: T Ohura; K Narisawa; K Tada
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

3. 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

4. Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Authors: L R Desviat; B Pérez; M Ugarte
Journal: Hum Genet Date: 1993-10-01 Impact factor: 4.132

5. Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.

Authors: T Tahara; J P Kraus; T Ohura; L E Rosenberg; W A Fenton
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

5 in total

1 in total

1. 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

1 in total