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. 2010 Jul 9;87(1):146–153. doi: 10.1016/j.ajhg.2010.06.008

Figure 2.

Figure 2

Genomic Structure and Mutation Analysis of FLNA

(A) c.5217G>A was confirmed by Sanger sequencing in all of the patients. The unaffected family members and controls carry the homozygous normal allele.

(B) The sequence of c.5850T>C in family 1.

(C) FLNA is located in Xq28, the target region of linkage analysis. c.5217G>A alters the last nucleotide of exon 31 of FLNA.