On***e Mendelian Inheritance in Man : Entry - #143100 - HUNTINGTON DISEASE; HD
Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, ...
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Pe***e also ask : What is the genotype for Huntington's disease?
Glossary. Most individuals with Huntington disease (HD) are heterozygous for the cytosine-adenine-guanine (CAG) repeat, having one wild-type (wtHTT) and one abnormally expanded mutant huntingtin gene (mHTT) allele.
Pe***e also ask : What is the DNA sequence for Huntington's disease?
The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat . This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene.
Pe***e also ask : What is the gene locus of Huntington's disease?
The disease results from changes (mutations) of a gene known as “huntington” located on the short arm (p) of chromosome 4 (4p16. 3). In those with the disorder, the huntington gene contains errors in the coded “building blocks” (nucleotide bases) that make up the gene's instructions.
Pe***e also ask : What are the hallmarks of Huntington's disease?
The hallmark symptom of Huntington's disease is uncontrolled movement of the arms, legs, head, face and upper body. Huntington's disease also causes a decline in thinking and reasoning skills, including memory, concentration, judgment, and ability to plan and organize.
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Part Number: 143100-LED. STRINGLIGHT, E-LITE W/ 100FT 14/3 YEL SJTW CABLE W/ 10 LIGHTS EVERY 10FT. PRI = NEMA 5-15P PLUG & SEC = NEMA 5-15C CONN.
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McDonnell & Miller 63M Low Water Cut-Off with Manual Reset (143100). SKU. MH1056. Model. 63-M. MPN. 143100. List Price $880.00 $686.13 / each.
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