Výsledky vyhledávání - "Barbara I. Honecker"

Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia

Autor: Rim Hjeij, Isabella Aprea, Marco Poeta, Tabea Nöthe-Menchen, Diana Bracht, Johanna Raidt, Barbara I. Honecker, Gerard W. Dougherty, Heike Olbrich, Oliver Schwartz, Ulrike Keller, Harald Nüsse, Karin E.M. Diderich, Christian Vogelberg, Francesca Santamaria, Heymut Omran

Publikováno v: Genetics in Medicine, 25(5):100798. Lippincott Williams & Wilkins

Purpose: Primary ciliary dyskinesia (PCD) is a heterogeneous disorder that includes respiratory symptoms, laterality defects, and infertility caused by dysfunction of motile cilia. Most PCD-causing variants result in abnormal outer dynein arms (ODAs)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a53d2c5b667d203ce6266b3a94f354fb
https://pure.eur.nl/en/publications/96f03a11-eee6-4329-bd32-a4d6866ccf51

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