Associated Papers
Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.
Wang H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
Kör D et al.
The Turkish Journal of Pediatrics, 2019
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Mutation analysis in 54 propionic acidemia patients.
Kraus JP et al.
Journal of Inherited Metabolic Disease, 2012
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Yang X et al.
Molecular Genetics and Metabolism, 2004
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0
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