Huntington disease without CAG expansion: phenocopies or errors in assignment?
about
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopiesThe prenatal exclusion test for Huntington's disease: experience in the west of Scotland, 1986-1993.A comparison of the Huntington's disease associated trinucleotide repeat between Chinese and white populationsMolecular diagnostic analysis for Huntington's disease: a prospective evaluation.Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.Huntington disease phenocopy is a familial prion disease.Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.Family history and DNA analysis in patients with suspected Huntington's disease.Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing.Correlation between CAG repeat length and clinical features in Machado-Joseph diseaseLikelihood methods for locating disease genes in nonequilibrium populations.Proceed with care: direct predictive testing for Huntington disease.Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysisUpdate on the Non-Huntington's Disease Choreas with Comments on the Current NomenclatureUntangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.Neuropathological diagnosis and CAG repeat expansion in Huntington's disease.The genetic defect causing Huntington's disease: repeated in other contexts?Medical genetics: advances in brief: Huntington disease without CAG expansion: phenocopies or errors in assignment?
P2860
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P2860
Huntington disease without CAG expansion: phenocopies or errors in assignment?
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Huntington disease without CAG expansion: phenocopies or errors in assignment?
@ast
Huntington disease without CAG expansion: phenocopies or errors in assignment?
@en
type
label
Huntington disease without CAG expansion: phenocopies or errors in assignment?
@ast
Huntington disease without CAG expansion: phenocopies or errors in assignment?
@en
prefLabel
Huntington disease without CAG expansion: phenocopies or errors in assignment?
@ast
Huntington disease without CAG expansion: phenocopies or errors in assignment?
@en
P2093
P2860
P1476
Huntington disease without CAG expansion: phenocopies or errors in assignment?
@en
P2093
Almquist E
Goldberg YP
Squitieri F
Telenius H
Theilmann J
P2860
P304
P407
P577
1994-05-01T00:00:00Z