Molecular analysis of ITGA7 gene mutation. (A) Mutation analysis of the ITGA7 gene. Arrowheads mark the sites of base alterations. The DNA sequences of the family subjects are shown; the pedigree number is indicated on the right. (B) Evolutionary conservation analysis. The glutamic acid at position 882 is underlined. (C) ITGA7 mRNA expression in human tissues and in RNA derived from family members. M indicates the 1 kb Plus marker (Fermentas).