Albertine Donker

IRIDA: a Heterogeneous Disease 189 4 Allele c.1563C>T c.1654G>A b c.1699+20C>T c.2207T>C c.2217C>T + - - - - - + - + - M1 P2 + + - - - - + + + + M1 P1 + - - - - + + - + - M1 M2 - + - - + - - + - + M2 P1 + - na + + - + A B + - na + - - - A C Abbreviations: M1=mutant TMPRSS6 allele inherited from mother, M2= wild type TMPRSS6 allele inherited frommother, P1= wild type TMPRSS6 allele inherited from father, P2 = wild type TMPRSS6 allele complementary to P1, inherited from father. A= mutant TMPRSS6 allele, B and C: wild type TMPRSS6 alleles.