Article
Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency.
Human genetics - 1 Sept 2009
Pintao Maria C, Garcia A A, Borgel D, Alhenc-Gelas M, Spek C A, de Visser M C H, Gandrille S, Reitsma Pieter H
Abstract excerpt
Hereditary protein S (PS) deficiency is an autosomal disorder caused by mutations in the PS gene (PROS1). Conventional PCR-based mutation detection identifies PROS1 point mutations in approximately 50% of the cases. To verify if gross copy number variations (CNVs) are often present in point mutation-negative hereditary PS deficiency we used multiplex ligation-dependent probe amplification (MLPA) as a detection...
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