Descripción de una nueva mutación germinal en el gen TP53 en una familia con síndrome de Li-Fraumeni. Asesoramiento clínico a los portadores sanos
Description of a new tp53 gene germline mutation in a family with the li-fraumeni syndrome. genetic counselling to healthy mutation carriers
Judith Balmañaa,
, Josep Nomdedéub, Orland Díezc, Josep Maria Sabatéd, Anna Balile, Carles Pericaya, Juan José López Lópeza, Joan Bruneta, Montse Baigetb, Carmen Alonsoa
Autor para correspondencia
jbalmana@hsp.santpau.es
Correspondencia: Dra. Judith Balmaña. Servicio Oncología Médica. Hospital Sant Pau. Sant Antoni M.a Claret, 167. 08025 Barcelona.
Correspondencia: Dra. Judith Balmaña. Servicio Oncología Médica. Hospital Sant Pau. Sant Antoni M.a Claret, 167. 08025 Barcelona.
a Servicio de Oncología Médica. Hospital de la Santa Creu i Sant Pau. Barcelona. España
b Servicio de Hematología. Hospital de la Santa Creu i Sant Pau. Barcelona. España
c Servicio de Genética. Hospital de la Santa Creu i Sant Pau. Barcelona. España
d Servicio de Radiodiagnóstico. Hospital de la Santa Creu i Sant Pau. Barcelona. España
e Servicio de Oncología Médica. Hospital Arnau de Vilanova. Lleida. España
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