Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis.
about
Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts.Autosomal dominant hereditary ataxia in Sri Lanka.Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.Molecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions.The role of electrophoresis in disease biomarker discovery.Analysis of autosomal dominant spinocerebellar ataxia type 1 in an extended family of central IndiaSpinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.Scalable transcriptional analysis routine--multiplexed quantitative real-time polymerase chain reaction platform for gene expression analysis and molecular diagnostics.Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families.Recessive spinocerebellar ataxia with paroxysmal cough attacks: a report of five cases.Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).Accurate and sensitive analysis of triplet repeat expansions by capillary electrophoresis.Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals.
P2860
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P2860
Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Diagnosis of five spinocerebel ...... and capillary electrophoresis.
@ast
Diagnosis of five spinocerebel ...... and capillary electrophoresis.
@en
type
label
Diagnosis of five spinocerebel ...... and capillary electrophoresis.
@ast
Diagnosis of five spinocerebel ...... and capillary electrophoresis.
@en
prefLabel
Diagnosis of five spinocerebel ...... and capillary electrophoresis.
@ast
Diagnosis of five spinocerebel ...... and capillary electrophoresis.
@en
P2093
P2860
P1476
Diagnosis of five spinocerebel ...... and capillary electrophoresis.
@en
P2093
Deborah Barden
Karen Stephens
Michael O Dorschner
P2860
P304
P356
10.1016/S1525-1578(10)60689-7
P577
2002-05-01T00:00:00Z