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