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An inherited progressive disorder in which tumors form on peripheral nerves. The tumors can be severely disfiguring and can also result in loss of hearing and vision, cancer, epilepsy, bone deformities, and learning disabilities.
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(NPC) A disease that causes progressive deterioration of the nervous system by blocking movement of cholesterol within cells. The gene responsible for it, known as NPC1, is located on human chromosome 18.
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The strand of DNA that does not carry the information necessary to make a protein. The non-coding strand is the mirror image of the coding strand and is also known as the antisense strand.
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The process by which genetic counselors advise clients toward a certain test or outcome, particularly related to child-bearing issues, without pressure or coercion.
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A single DNA base substitution resulting in a stop codon.
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A technique used to identify and locate mRNA sequences that are complementary to a piece of DNA called a probe.
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One of the structural components, or building blocks, of DNA and RNA. A nucleotide consists of a base (one of four chemicals: adenine, thymine, guanine, and cytosine) plus a molecule of sugar and one of phosphoric acid.
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The central cell structure that houses the chromosomes.
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