IMEX   05356
INSTITUTO DE MEDICINA EXPERIMENTAL
Unidad Ejecutora - UE
artículos
Título:
Are int22h mediated deletions a common cause of hemophilia?
Autor/es:
ABELLEYRO M.M.; ROSSETTI L C; RADIC C.P.; CANDELA M,; LARRIPA I.B.; DE BRASI CD
Revista:
ANNALS OF HEMATOLOGY
Editorial:
SPRINGER
Referencias:
Lugar: Berlin; Año: 2012 vol. 91 p. 633 - 636
ISSN:
0939-5555
Resumen:
This Scientific Letter provides to the scientific community with a simple practical approach to further support Del22 (i.e., deletions of 0.5 Mb involving int22h duplicons) molecular diagnosis in addition to those available for genotyping all int22h mediated rearrangements, shows an Argentine series of int22h related rearrangements and discusses in deph the possible clinical consequences of hemizygous Del22.