Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

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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http://www.wikidata.org/entity/Q38344696
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

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

Item
http://www.wikidata.org/entity/Q38344696
description
2004 nî lūn-bûn
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2004年の論文
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2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
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@wuu
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@zh
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
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Possible reduced penetrance of ...... spinocerebellar ataxia type 17
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698