Human Propionyl-CoA Carboxylase β Subunit Gene: Exon-Intron Definition and Mutation Spectrum in Spanish and Latin American Propionic Acidemia Patients

Author:

Rodríguez-Pombo Pilar,Hoenicka Janet,Muro Silvia,Pérez Belén,Pérez-Cerdá Celia,Richard Eva,Desviat Lourdes R.,Ugarte Magdalena

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference34 articles.

1. Recommendations for a nomenclature system for human gene mutations;Antonarakis;Hum Mutat,1998

2. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction;Chomczynski;Anal Biochem,1987

3. The CpP dinucleotide and human genetic disease;Cooper;Hum Genet,1988

4. Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency;Del Valle;J Inherit Metab Dis,1982

5. Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity;Desviat;Am J Hum Genet,1995

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