Additional file 2 of Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China
Molecular chaperones are abundant cellular proteins that promote the folding, function and macromolecular assembly of a diverse set of substrate proteins, also known as clients. Regulation of chaperon
Primary Ciliary Dyskinesia (PCD) is a heterogeneous genetic condition characterized by dysfunction of motile cilia. Patients suffer from chronic infection and inflammation of the upper and lower respi
Cilia are highly conserved microtubule-based structures that perform a variety of sensory and motility functions during development and adult homeostasis. In humans, defects specifically affecting mot
In this dataset, exome and genome sequencing for suspected primary ciliary dyskinesia cohort, including FASTQ, VCF, and BAM files. 61 participants and their family members had exome sequencing perform
Additional file 2. Table S1. Clinical features and detected mutated genes and variants of the 26 confirmed PCD patients of Chinese origin. a. The patients are listed according to different categories
