Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.
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Parkinsonism in spinocerebellar ataxiaThe Pathogenic Role of Low Range Repeats in SCA17.Molecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.A spinocerebellar ataxia family with expanded alleles in the TATA-binding protein gene and ataxin-3 gene.Huntington's disease: how intermediate are intermediate repeat lengths?From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias
P2860
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P2860
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.
description
2004 nî lūn-bûn
@nan
2004年の論文
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2004年論文
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2004年論文
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2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
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2004年论文
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2004年论文
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name
Possible reduced penetrance of ...... pinocerebellar ataxia type 17.
@en
type
label
Possible reduced penetrance of ...... pinocerebellar ataxia type 17.
@en
prefLabel
Possible reduced penetrance of ...... pinocerebellar ataxia type 17.
@en
P2093
P1433
P1476
Possible reduced penetrance of ...... spinocerebellar ataxia type 17
@en
P2093
Hideo Terasawa
Hirofumi Maruyama
Keiji Ichikawa
Masafumi Ogawa
Masaya Oda
Masayasu Matsumoto
Minoru Yasuda
Osamu Komure
Tohru Imamura
Yuishin Izumi
P304
P356
10.1001/ARCHNEUR.61.2.209
P577
2004-02-01T00:00:00Z