|
Huntington disease gene mutation carrier detection test
Huntington disease gene mutation carrier detection test
Potter NT, Spector EB, & Prior TW: Technical standards and guidelines for Huntington disease testing. Genet Med 2004; 6(1):61-65.
ACMG/ASHG: ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group. Am J Hum Genet 1998; 62(5):1243-7. Available from URL: http://www.journals.uchicago.edu/AJHG/journal/issues/v62n5/980185/980185.html. As accessed 01/26/05 .
Brandt J, Bylsma FW, Gross R, et al: Trinucleotide repeat length and clinical progression in Huntington's disease. Neurology 1996; 46(2):527-31.
Kremer B, Goldberg P, Andrew SE, et al: A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994; 330(20):1401-1406. Available from URL: http://content.nejm.org/cgi/content/full/330/20/1401. As accessed 01/26/05.
Snell RG, MacMillan JC, Cheadle JP, et al: Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 1993; 4:393-7.
|