Skip to main content
Fig. 2 | BMC Medical Genetics

Fig. 2

From: Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

Fig. 2

a Electropherograms of DNA sequences from family member. Solid arrowhead indicates the c.656C > A mutation. Open arrowhead represents the single nucleotide polymorphism rs11675767. b Digital polymerase chain reaction targeted to NPHP1 and BUB1. The number of copies of NPHP1 (left panel), BUB1 (middle panel), and the copy number ratios of NPHP1 to BUB1 (right panel) are shown

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us