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[Clinical manifestations and detection of pantothenate kinase 2 gene mutation in a patient with Hallervorden-Spatz syndrome].

Zhonghua yi xue za zhi - 22 Dec 2009

Song Xing-wang, Wang Yu-liang, Shi Yi-wu, Deng Wei-yi, Chen Sheng-qiang, Lin Han, Yi Yong-hong, Liao Wei-ping

Abstract excerpt

OBJECTIVE: To investigate the clinical features and detection of pantothenate kinase 2 (PANK2) gene mutation in a Chinese patient with Hallervorden-Spatz syndrome (HSS). METHODS: The clinical features were analyzed in one HSS patient. PANK2 gene mutations were detected by polymerase chain reaction (PCR) and DNA sequence analysis in this patient, her parents and 50 unrelated healthy persons. RESULTS: The main...

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PMID: 20193558

Genes

PANK2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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