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Article

A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.

Auris, nasus, larynx - 1 Jun 2018

Takeuchi Kazuhiko, Kitano Masako, Kiyotoshi Hiroko, Ikegami Koji, Ogawa Satoru, Ikejiri Makoto, Nagao Mizuho, Fujisawa Takao, Nakatani Kaname

Abstract excerpt

OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The early diagnosis of PCD is important for the prevention of long-term sequelae; however, this is often challenging because of the phenotypic heterogeneity of PCD and difficulty in genetic analysis. The majority of PCD patients in Japan are not diagnosed properly. To diagnose PCD...

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Source

Identifiers

PMID: 28939216
DOI: 10.1016/j.anl.2017.09.007

Genes

DNAH5
DNAI1
CCDC40

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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