Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice-Reference-Cited by-同舟云学术

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice

Published:2003-10-22 Issue:11 Volume:11 Page:872-878
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Costa Maria do Carmo,Magalhães Paula,Ferreirinha Fátima,Guimarães Laura,Januário Cristina,Gaspar Isabel,Loureiro Leal,Vale José,Garrett Carolina,Regateiro Fernando,Magalhães Marina,Sousa Alda,Maciel Patrícia,Sequeiros Jorge

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201055.pdf

Reference29 articles.

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2. Harper PS : The epidemiology of Huntington's disease. J Med Genet 1992; 89: 365–372.

3. The Huntington Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72: 971–983.

4. The American College of Medical Genetics/American Society of Human Genetics/Huntington Disease Genetic Testing Working Group: Laboratory Guidelines for Huntington Disease Genetic Testing. Am J Hum Genet 1998; 62: 1243–1247.

5. Losekoot M, Bakker B, Laccone F, Stenhouse S, Elles R : A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease. Eur J Hum Genet 1999; 7: 217–222.

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