Skip to main content
Fig. 4 | BMC Ophthalmology

Fig. 4

From: A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy

Fig. 4

A Sequence chromatogram and alignment to the reference sequence showing the variant in exon 2 of the BEST1 gene (chr11:g.61951909G > A; c.103G > A; p.Glu35Lys) detected in heterozygous condition in the proband and the unaffected mother. B The variant in exon 4 of the BEST1 gene (chr11:g.61955783C > A; c.313C > A), was detected in the proband but not in the unaffected mother. The reference sequence NM_004183 of BEST1 was used

Back to article page

BMC Ophthalmology

ISSN: 1471-2415

Contact us