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

doi:10.1007/BF00209492

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Article

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

Human genetics - 1 Jun 1995

Ohura T, Narisawa K, Tada K, Iinuma K

Abstract excerpt

Propionic acidemia is an inborn error of organic acid metabolism caused by a deficiency of propionyl Coenzyme A (CoA) carboxylase. cDNAs sequenced from a beta subunit deficient Japanese patient (no. 187) showed an in-frame 57-bp deletion in one allele. Genomic DNA analysis revealed a four-nucleot...

Topics

Acyl Coenzyme A
Base Sequence
Carboxy-Lyases
Female
Humans
Japan
Metabolism, Inborn Errors
Methylmalonyl-CoA Decarboxylase
Molecular Sequence Data
Mutation
Propionates
RNA Splicing
Repetitive Sequences, Nucleic Acid

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