case_images: PMC548506_01
case_images: a) Sequence of the index patient with exon 5 c.920A C heterozygous missense mutation. b) The same mutation sequenced with a reverse primer.
case_images: 1471-2350-6-5-1.jpg
case_images: PMC548506_01_1471-2350-6-5-1.jpg
case_images: F1
case_images: A novel heterozygous missense mutation, c.920A C, was detected (Figure 1) and found to segregate with the disease in this family.