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Neuronal Ceroid-Lipofuscinosis type 3 (NCL3)
Neuronal Ceroid-Lipofuscinosis type 3 (NCL3)

... Neuronal ceroid-lipofuscinosis type 3 (NCL3; MIM #204200) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN3 gene. NCL3 is one of at least eight genetically distinct diseases associated with the NCL disease spectrum. NCL3 is generally referred to as juvenile NCL ...
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... • contains • carbon sugar-deoxyribose • nitrogenous base • 1-3 PO4 groups • contains 4 different nucleotides • each with different nitrogenous base • bases are found in 2 major groups • Purines – double ring structures – adenine (A) – guanine (G) • Pyrimidines – single ring structures – thymine (T) ...
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Cells, DNA and Genetics

... so that upon fertilization, the correct number of chromosomes are restored (in human terms, baby will have 46 chromosomes, if you didn’t half the number of chromosomes in the gametes, upon fertilization baby would have 92 chromosomes and would no longer be human!) 10. We inherit our chromosomes and ...
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Therapeutic gene modulation

Therapeutic gene modulation refers to the practice of altering the expression of a gene at one of various stages, with a view to alleviate some form of ailment. It differs from gene therapy in that gene modulation seeks to alter the expression of an endogenous gene (perhaps through the introduction of a gene encoding a novel modulatory protein) whereas gene therapy concerns the introduction of a gene whose product aids the recipient directly.Modulation of gene expression can be mediated at the level of transcription by DNA-binding agents (which may be artificial transcription factors), small molecules, or synthetic oligonucleotides. It may also be mediated post-transcriptionally through RNA interference.
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