Coding Sequence Mutations in the Alpha Subunit of Propionyl-CoA Carboxylase in Patients with Propionic Acidemia
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference55 articles.
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3. Isolation and characterization of propionyl CoA carboxylase from normal human liver: Evidence for a protomeric tetramer of non-identical subunits;Kalousek;J Biol Chem,1980
4. Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase;Kraus;Proc Natl Acad Sci USA,1986
5. Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: Chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes;Lamhonwah;Proc Natl Acad Sci USA,1986
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1. Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital;Orphanet Journal of Rare Diseases;2022-03-24
2. Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation;BMC Pregnancy and Childbirth;2020-11-12
3. Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies;Orphanet Journal of Rare Diseases;2020-10-07
4. Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia;BMC Medical Genetics;2020-04-06
5. Methylmalonic and propionic acidemias: clinical management update;Current Opinion in Pediatrics;2016-12
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