A modifier of Huntington's disease onset at the MLH1 locus

Author:

Lee Jong-Min123,Chao Michael J.12,Harold Denise4,Abu Elneel Kawther1,Gillis Tammy1,Holmans Peter4,Jones Lesley4,Orth Michael5,Myers Richard H.6,Kwak Seung7,Wheeler Vanessa C.12,MacDonald Marcy E.123,Gusella James F.138

Affiliation:

1. Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA

2. Department of Neurology, Harvard Medical School, Boston, MA 02115, USA

3. Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA

4. Medical Research Council (MRC) Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK

5. Department of Neurology, Ulm University, 89081 Ulm, Germany

6. Department of Neurology and Genome Science Institute, Boston University School of Medicine, Boston, MA 02118, USA

7. CHDI Foundation, Princeton, NJ 08540, USA

8. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA

Funder

Medical Research Council

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference36 articles.

1. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes;Huntington's Disease Collaborative Research Group;Cell,1993

2. The HTT CAG-expansion mutation determines age at death but not disease duration in Huntington disease;Keum;Am. J. Hum. Genet,2016

3. Huntington disease;Bates;Nat. Rev. Dis. Primers,2015

4. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease;Andrew;Nat. Genet,1993

5. Trinucleotide repeat length instability and age of onset in Huntington's disease;Duyao;Nat. Genet,1993

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