Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family (Q49291722)
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scientific article published in July 2001
Language | Label | Description | Also known as |
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English | Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family |
scientific article published in July 2001 |
Statements
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Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family (English)
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Comabella M
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Waye JS
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Raguer N
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Eng B
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Domínguez C
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Navarro C
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Borrás C
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Krivit W
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Montalbán X
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1 July 2001
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50
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1
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108-112
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Identifiers
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