Further, we identified two novel loci jointly associated with AD and BIP implicating the <i>MARK2</i> gene (lead SNP rs10792421, conjunctional FDR = 0.030, same direction of effect) and the <i>VAC14</i> gene (lead SNP rs11649476, conjunctional FDR = 0.022, opposite direction of effect).
Further, we identified two novel loci jointly associated with AD and BIP implicating the <i>MARK2</i> gene (lead SNP rs10792421, conjunctional FDR = 0.030, same direction of effect) and the <i>VAC14</i> gene (lead SNP rs11649476, conjunctional FDR = 0.022, opposite direction of effect).
We report on a novel integrin-dependent platelet dysfunction in two brothers with LAD-III syndrome caused by a homozygous mutation 1717C>T in the FERMT3 gene leading to a premature stop codon R573X in the focal adhesion protein kindlin-3.
We report on a novel integrin-dependent platelet dysfunction in two brothers with LAD-III syndrome caused by a homozygous mutation 1717C>T in the FERMT3 gene leading to a premature stop codon R573X in the focal adhesion protein kindlin-3.