Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients

• Autori principali: Hani K. Fanous (Autore), Silvia Delgado-Villata (Autore), Reka Kovacs (Autore), Eglal Shalaby-Rana (Autore), Iman Sami-Zakahri (Autore)
• Natura: Libro
• Pubblicazione: MDPI AG, 2018-07-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Cystic fibrosis (CF) is the most common fatal genetic diseases in the United States in Caucasians. More than 2000 genetic mutations have been described and CF is now known to affect other races. The incidence of CF in individuals of Hispanic descent is estimated to be 1:9200. An uncommon mutation, 1...