Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.
about
EFNS guidelines on diagnosis and treatment of primary dystonias.Milestones in dystonia.Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE.Functional characterization of tissue-specific enhancers in the DLX5/6 locus.The syndrome of deafness-dystonia: clinical and genetic heterogeneity.Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
P2860
Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年学术文章
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name
Cryptic 7q21 and 9p23 deletion ...... ovo reciprocal translocation t
@nl
Cryptic 7q21 and 9p23 deletion ...... silon-sarcoglycan (SGCE) gene.
@en
type
label
Cryptic 7q21 and 9p23 deletion ...... ovo reciprocal translocation t
@nl
Cryptic 7q21 and 9p23 deletion ...... silon-sarcoglycan (SGCE) gene.
@en
prefLabel
Cryptic 7q21 and 9p23 deletion ...... ovo reciprocal translocation t
@nl
Cryptic 7q21 and 9p23 deletion ...... silon-sarcoglycan (SGCE) gene.
@en
P2093
P2860
P1476
Cryptic 7q21 and 9p23 deletion ...... silon-sarcoglycan (SGCE) gene.
@en
P2093
P2860
P2888
P304
P356
10.1007/S10038-008-0321-Z
P577
2008-07-24T00:00:00Z