CISMONDI INÉS ADRIANA
Capítulos de libros
Título:
CLN6
Libro:
The Neuronal Ceroid Lipofuscinosis (Batten Disease), 2° edición
Editorial:
Oxford University Press
Referencias:
Lugar: Oxford; Año: 2011; p. 159 - 175
Resumen:
Mutations in CLN6 cause one of the earliest variant NCLs recognized (Lake and Cavanagh,
1978 ), originally termed early juvenile NCL, and are now known to underlie one of the many
types of late infantile variant NCLs. Patients are of diverse ethnic origin. The function of CLN6 is unknown.