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Fig. 6 | Orphanet Journal of Rare Diseases

Fig. 6

From: Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Fig. 6

The CNV identified in patient 1. a The family pedigree chart for patient 1. b The Sanger sequencing results of c.G7769A in DNAH5. The mutation was of maternal origin. c The gDNA qPCR result, showing duplication of exon 42, exon 43, and exon 44 of DNAH5 in the patient and his father. d Schematic diagram and Sanger sequencing confirmation of the duplication CNV

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172