Article
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
Human mutation - 1 May 2003
Teixeira Carla A, Espinola Janice, Huo Liang, Kohlschütter Johannes, Persaud Sawin Dixie-Ann, Minassian Berge, Bessa Carlos J P, Guimarães A, Stephan Dietrich A, Sá Miranda Maria Clara, MacDonald Marcy E, Ribeiro Maria Gil, Boustany Rose-Mary N
Abstract excerpt
The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of autosomal recessive neurodegenerative diseases comprising Batten and other related diseases plus numerous variants. They are characterized by progressive neuronal cell death. The CLN6 gene was recently identified, mutations in which cause one of the variant late infantile forms of NCL (vLINCL). We describe four novel mutations in the CLN6...
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