False-negative result for Huntington's disease mutation

The Lancet ◽  
1994 ◽  
Vol 343 (8907) ◽  
pp. 1232 ◽  
Author(s):  
Gareth Cross ◽  
Terry Pitt ◽  
Abid Sharif ◽  
Gillian Bates ◽  
Hans Lehrach
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
False Negative ◽  
False Negative Result ◽  
Disease Mutation

False‐negative tests in Huntington's disease: A new variant within primer hybridization site

2021 ◽  
Author(s):  
Jaroslaw Dulski ◽  
Anna Sulek ◽  
Magdalena Krygier ◽  
Wiktoria Radziwonik ◽  
Jaroslaw Slawek
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
False Negative ◽  
Hybridization Site ◽  
New Variant

Huntingtin fragmentation and increased caspase 3, 8 and 9 activities in lymphoblasts with heterozygous and homozygous Huntington's disease mutation

2006 ◽  
Vol 127 (2) ◽  
pp. 213-216 ◽  
Author(s):  
Vittorio Maglione ◽  
Milena Cannella ◽  
Roberto Gradini ◽  
Giuliana Cislaghi ◽  
Ferdinando Squitieri
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Caspase 3 ◽  
Disease Mutation

scholarly journals Selective Discrimination Learning Impairments in Mice Expressing the Human Huntington's Disease Mutation

1999 ◽  
Vol 19 (23) ◽  
pp. 10428-10437 ◽  
Author(s):  
Lisa A. Lione ◽  
Rebecca J. Carter ◽  
Mark J. Hunt ◽  
Gillian P. Bates ◽  
A. Jennifer Morton ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Discrimination Learning ◽  
Disease Mutation ◽  
Learning Impairments

The neurogenetics genie: Testing for the Huntington's disease mutation

Neurology ◽  
1994 ◽  
Vol 44 (8) ◽  
pp. 1369-1369 ◽  
Author(s):  
S. Hersch ◽  
R. Jones ◽  
W. Koroshetz ◽  
K. Quaid
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Mutation

scholarly journals Abnormal Synaptic Plasticity and Impaired Spatial Cognition in Mice Transgenic for Exon 1 of the Human Huntington's Disease Mutation

2000 ◽  
Vol 20 (13) ◽  
pp. 5115-5123 ◽  
Author(s):  
Kerry P. S. J. Murphy ◽  
Rebecca J. Carter ◽  
Lisa A. Lione ◽  
Laura Mangiarini ◽  
Amarbirpal Mahal ◽  
...  
Keyword(s):  
Synaptic Plasticity ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Spatial Cognition ◽  
Disease Mutation ◽  
Exon 1

scholarly journals Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9

2016 ◽  
pp. ddw286 ◽  
Author(s):  
Jun Wan Shin ◽  
Kyung-Hee Kim ◽  
Michael J. Chao ◽  
Ranjit S. Atwal ◽  
Tammy Gillis ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Mutation ◽  
Allele Specific
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