Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare disorder with variable disease progression. To date, mutations in more than 20 different genes have been found. At present, PCD subtypes are described according to the ultrastructural defect on transmission electron microscopy (TEM) of the motil...

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Главные авторы: Boon, Mieke, Smits, Anne, Cuppens, Harry, Jaspers, Martine, Proesmans, Marijke, Dupont, Lieven J, Vermeulen, Francois L, Van Daele, Sabine, Malfroot, Anne, Godding, Veronique, Jorissen, Mark, De Boeck, Kris
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2014
Предметы:
Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4016480/
https://ncbi.nlm.nih.gov/pubmed/24450482
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-11
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