Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8648132 | Blood Cells, Molecules, and Diseases | 2017 | 6 Pages |
Abstract
In this study, we identified a novel 1Â bp-deletion in the HPS3 gene causing HPS3 phenotype in two brothers. In patients with oculocutaneous albinism and increased bleeding symptoms platelet function should be analyzed. The identification of the molecular genetic defect allows the classification to a particular HPS subtype and is important for therapy and prognosis.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Molecular Biology
Authors
Kirstin Sandrock-Lang, Ingrid Bartsch, Nina Buechele, Udo Koehler, Carl Philipp Simon-Gabriel, Matthias Eckenweiler, Barbara Zieger,