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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report

Fig. 1

Mutation analysis by direct sequencing in CLCNKB. a pedigree of the patient’s family. The arrow indicates the proband; her elder identical twin sister was clinically hypothesized died of BS. b Mutation analysis by direct generation sequencing in CLCNKB. The patient is compound heterozygous, the point deletion of c.1696delG (p. Glu566fs) inherited from her mother. c MLPA showed the other heterozygous mutation of the deletion of exon 2–3 in the CLCNKB of the patient. (Arrow shows the position of the mutation)

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