Article
Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.
Human molecular genetics - 1 Sept 2002
Persaud-Sawin Dixie-Ann N W, VanDongen Antonius, Boustany Rose-Mary N
Abstract excerpt
Juvenile Batten disease (JNCL) is an autosomal recessive disease that results from mutations in the CLN3 gene. The wild-type CLN3 gene coding sequence has 15 exons, and the translated protein consists of 438 amino acids. The most commonly observed mutation is a 1.02 kb deletion in the genomic DNA. This deletion results in a truncated protein due to the loss of amino acids 154-438, and the introduction of 28 novel...
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