A homozygote for the c.459 1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy. (Q54356704)
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scientific article
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | A homozygote for the c.459 1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy. |
scientific article |
Statements
A homozygote for the c.459 1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy. (English)
31 December 2013