Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.
Levin C, Koren A, Pretorius E, Rosenberg N, Shenkman B, Hauschner H, Zalman L, Khayat M, Salama I, Elpeleg O, Shalev S.
Levin C, et al.
J Thromb Haemost. 2015 Jul;13(7):1285-92. doi: 10.1111/jth.12966. Epub 2015 May 25.
J Thromb Haemost. 2015.
PMID: 25876182
Free article.
Homozygosity mapping and exome sequencing were used to identify the genetic lesion causing the disease phenotype on chromosome 5. Bone-marrow morphology and platelet function were analyzed. Platelets were characterized by scanning electron microscopy. RESULTS: We id …
Homozygosity mapping and exome sequencing were used to identify the genetic lesion causing the disease phenotype on chromosome 5. Bone …