Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Pintao, Maria C., Garcia, A. A., Borgel, D., Alhenc-Gelas, M., Spek, C. A., de Visser, M. C. H., Gandrille, S., Reitsma, Pieter H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774415/
https://www.ncbi.nlm.nih.gov/pubmed/19466456
http://dx.doi.org/10.1007/s00439-009-0687-9

Ejemplares similares

Ejemplares similares