Article

Rare mutation of the CCNO gene in patients with primary ciliary dyskinesia

2018-12-29

Abstract excerpt

Primary ciliary dyskinesia is a rare genetically determined pathology leading to the development of chronic inflammatory lesions of the respiratory system in children, impaired fertile function in older patients. The disease is characterized by an autosomal recessive mode of inheritance with marked genetic heterogeneity. The article describes clinical observation of a patient – carrier of a rare mutation and descr...

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Literature Corpus work: e5ee359e-f897-5f12-b42c-d9580c709151
DOI: 10.21508/1027-4065-2018-63-5-83-87

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