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Article

[Three single nucleotide polymorphisms of porphobilinogen deaminase gene related to a Chinese patient with acute intermittent porphyria].

Zhonghua yi xue za zhi - 9 Sept 2008

Cao Xiao-Pei, Su Lei, Xiao Hai-Peng, Liu Yuan-Yuan, Li Yan-Bing, Xiu Ling-Ling

Abstract excerpt

OBJECTIVE: To analyzed the role of genetic factors in pathogenesis of acute intermittent porphyria (AIP). METHODS: Peripheral blood sample was collected from a Chinese female AIP patients, aged 36, to undergo direct sequencing to analyze all the exons and flanking introns of the porphobilinogen d...

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Source

Identifiers

PMID: 19087719

Genes

AIP
PPOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19087719-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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