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Article

Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.

Biochemical genetics - 1 Oct 2014

Chiu Yen-Hui, Liu Yu-Ning, Liao Wei-Ling, Chang Ying-Chen, Lin Shuan-Pei, Hsu Chia-Chi, Chiu Pao-Chin, Niu Dau-Ming, Wang Chung-Hsing, Ke Yu-Yuan, Chien Yin-Hsiu, Hsiao Kwang-Jen, Liu Tze-Tze

Abstract excerpt

Propionyl-CoA carboxylase (PCC) is involved in the catabolism of branched chain amino acids, odd-numbered fatty acids, cholesterol, and other metabolites. PCC consists of two subunits, α and β, encoded by the PCCA and PCCB genes, respectively. Mutations in the PCCA or PCCB subunit gene may lead t...

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Source

Identifiers

PMID: 24863100
DOI: 10.1007/s10528-014-9657-6

Genes

PCCB
PCCA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24863100-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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