Huntington disease reduced penetrance alleles occur at high frequency in the general population.

about

Genetic modifiers of Mendelian disease: Huntington's disease and the trinucleotide repeat disorders.Measuring Dynamic Behavior of Trinucleotide Repeat Tracts In Vivo in Saccharomyces cerevisiae.Neuro-Cardio Mechanisms in Huntington's Disease and Other Neurodegenerative Disorders.

P2860

Q49608512-953508BA-78D5-4E91-A195-CAC249CB2607 Q50086353-A99B6C53-259D-4321-94B8-FFACBE29CB28 Q54979284-6086C0E5-F1BF-48B9-99A1-939FB442C6A3

P2860

Huntington disease reduced penetrance alleles occur at high frequency in the general population.

Item

http://www.wikidata.org/entity/Q40686505

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Huntington disease reduced pen ...... ncy in the general population.

@en

type

Item

label

Huntington disease reduced pen ...... ncy in the general population.

@en

prefLabel

Huntington disease reduced pen ...... ncy in the general population.

@en

P1476

Huntington disease reduced pen ...... ncy in the general population.

@en

P2093

Chris Kay

http://www.w3.org/2001/XMLSchema#string

Erynn S Gordon

http://www.w3.org/2001/XMLSchema#string

Jennifer A Collins

http://www.w3.org/2001/XMLSchema#string

Mark Davidson

http://www.w3.org/2001/XMLSchema#string

Norman Gerry

http://www.w3.org/2001/XMLSchema#string

Ramy A Slama

http://www.w3.org/2001/XMLSchema#string

Steven J Madore

http://www.w3.org/2001/XMLSchema#string

Zosia Miedzybrodzka

http://www.w3.org/2001/XMLSchema#string

P2860

CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup

A global reference for human genetic variation

Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study.

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data.

Prediction of manifest Huntington's disease with clinical and imaging measures: a prospective observational study

Huntington disease: natural history, biomarkers and prospects for therapeutics.

Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.

Evaluation of microsatellite variation in the 1000 Genomes Project pilot studies is indicative of the quality and utility of the raw data and alignments.

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.

P304

282-288

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1212/WNL.0000000000002858

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Michael R. Hayden

P577

2016-06-22T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27335115

http://www.w3.org/2001/XMLSchema#string

P921

Huntington disease

P932

4955276

http://www.w3.org/2001/XMLSchema#string

Huntington disease reduced penetrance alleles occur at high frequency in the general population.

about

P2860

P2860

Huntington disease reduced penetrance alleles occur at high frequency in the general population.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P932