Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia

Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a disease caused by impaired function of motile cilia. PCD mainly affects the lungs and reproductive organs. Inheritance is autosomal recessive and X-linked. PCD patients have diverse clinical manifestations, thus making the establishment of proper diagnosis chall...

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Bibliographic Details
Main Authors: Nina Stevanovic, Anita Skakic, Predrag Minic, Aleksandar Sovtic, Maja Stojiljkovic, Sonja Pavlovic, Marina Andjelkovic
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:International Journal of Molecular Sciences
Subjects:
PCD
NGS
<i>DNAI1</i>
<i>SPAG16</i>
functional analysis
in silico structural analysis
Online Access:https://www.mdpi.com/1422-0067/22/16/8821

Internet

https://www.mdpi.com/1422-0067/22/16/8821

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