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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Fig. 1

Visualization of CLCNKB deletion detected. (a) BAM files generated from WES data and displayed in IGV visualizing the deletion of the entire CLCNKB gene in case 13 (bottom) while reads are present in case 16 (top) who carries a homozygous mutation in SLC26A4. (b) Confirmation of CLCNKB deletion by long range PCR shown as absence of CLCNKB product in 12/16 patients on a 1% agarose gel containing ethidium bromide. M = marker, Co = control

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