A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
about
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年學術文章
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2017年學術文章
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name
A novel homozygous change of C ...... halopathy with ataxia (LKPAT).
@en
A novel homozygous change of CLCN2
@nl
type
label
A novel homozygous change of C ...... halopathy with ataxia (LKPAT).
@en
A novel homozygous change of CLCN2
@nl
prefLabel
A novel homozygous change of C ...... halopathy with ataxia (LKPAT).
@en
A novel homozygous change of CLCN2
@nl
P2093
P50
P356
P1476
A novel homozygous change of C ...... phalopathy with ataxia (LKPAT)
@en
P2093
Chiara Maria Eandi
Christel Depienne
Daniele Dino
Eleonora Di Gregorio
Elisa Giorgio
Elisa Pozzi
Giovanna Vaula
Maria Teresa Giordana
Marta Ferrero
Simona Cavalieri
P304
P356
10.1136/JNNP-2016-315525
P407
P577
2017-05-04T00:00:00Z