Skip to main content
. 2013 Nov 27;22(7):902–906. doi: 10.1038/ejhg.2013.269

Figure 1.

Figure 1

(a) Pedigree of family. Affected individual is represented by filled figure. (b) DNA sequence showing in the lower case the wild-type sequence and in the upper case substitution of A to T (arrow) disrupting initial Met formation. Carrier parent is represented in the middle panel.