Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
Figure 2
DNA sequencing results. (a) DNA sequencing revealed a homozygous mutation of c.1619T>C, p.M540T in the patient. (b) Mother is a carrier. (c) Father is not a carrier. The c.1619 nucleotide residue is depicted by an arrow in forward and reverse sequence traces for the patient and both parents. The sequence of a normal control sample is shown for each case for comparison.
