Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia (Q43528679)
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| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia |
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Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia (English)
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Hiroshi Doi
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Chihiro Ohba
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Satoko Miyatake
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Noriko Miyake
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Yuko Kawamoto
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Tamaki Yoshida
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Shigeru Koyano
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Yume Suzuki
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Yoshiyuki Kuroiwa
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Fumiaki Tanaka
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Naomichi Matsumoto
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15 July 2013
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52
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14
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1629-1633
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