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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Bibliografiske detaljer
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2014
Fag:
Research
Online adgang: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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