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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype

Fig. 1

a Pedigree of family 1 with one female and one male offspring affected. Two novel mutations were detected in the DNAH11 gene: c.2341G > A p. (Glu781Lys) ja c.7645 + 5G > A, demonstrating compound heterozygosity. b: Pedigree of family 2. All three children (female) were affected. The novel mutation c.2341G > A p. Glu781Lys was first detected in family 1. HET = heterozygous DNAH11 gene mutation. HOM = homozygous DNAH11 gene mutation

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BMC Medical Genetics

ISSN: 1471-2350

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