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Article

Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.

Electrophoresis - 1 Mar 2007

Hung Chia-Cheng, Su Yi-Ning, Tsao Po-Nien, Chen Pau-Chung, Lin Shio-Jean, Lin Cheng-Hui, Mu Shu-Chi, Liu Chieh-An, Chang Ying-Chao, Lin Win-Li, Hsieh Wu-Shiun, Hsu Su-Ming

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a rare neurological disorder characterized by abnormal autonomic central nervous system control of breathing during sleep. Mutations in the paired-like homeobox 2B (PHOX2B) gene, including point mutation, frameshift, and polyalanine expansion, are associated with the pathogenesis of CCHS. In this study, PHOX2B mutations were analyzed in seven CCHS patients,...

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PMID: 17300129
DOI: 10.1002/elps.200600383

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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