DHPLC analysis of the MECP2 gene in Italian Rett patients

Autor: Nicolao P 1, 2, Carella M2, 7, Giometto B 1, Tavolato B 1, Cattin R 2, Giovannucci-Uzielli ML 3, Vacca M 4, Della Regione F 4, Piva S 5, Bortoluzzi S 5, Gasparini P 6.

Publikováno v: Human mutation 18 (2001): 132–140.
info:cnr-pdr/source/autori:Nicolao P 1,2, Carella M2,7, Giometto B 1, Tavolato B 1, Cattin R 2, Giovannucci-Uzielli ML 3, Vacca M 4, Della Regione F 4, Piva S 5, Bortoluzzi S 5, Gasparini P 6./titolo:DHPLC analysis of the MECP2 gene in Italian Rett patients/doi:/rivista:Human mutation/anno:2001/pagina_da:132/pagina_a:140/intervallo_pagine:132–140/volume:18

Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which almost exclusively affects girls, with an estimated prevalence of one in 10,000-15,000 female births. Mutations in the methyl CpG binding protein 2 gene (MECP2) have been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::548f2ca5748fafec94b0ae769f8306fb
https://publications.cnr.it/doc/26644