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heterozygous P482L mutation
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heterozygous P482L mutation
A case of cystinuria presenting with cerebellar ataxia and dementia
Rie
Tohge
,
Shinichi
Sakamoto
,
Makio
Takahashi
Practical Neurology
Aug 2016,
16
(4)
296-299;
DOI:
10.1136/practneurol-2016-001374
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