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Journal article

McLeod neuroacanthocytosis: genotype and phenotype.

Abstract:

McLeod syndrome is caused by mutations of XK, an X-chromosomal gene of unknown function. Originally defined as a peculiar Kell blood group variant, the disease affects multiple organs, including the nervous system, but is certainly underdiagnosed. We analyzed the mutations and clinical findings of 22 affected men, aged 27 to 72 years. Fifteen different XK mutations were found, nine of which were novel, including the one of the eponymous case McLeod. Their common result is predicted absence or...

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Publication status:
Published

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Publisher copy:
10.1002/ana.10035

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Journal:
Annals of neurology
Volume:
50
Issue:
6
Pages:
755-764
Publication date:
2001-12-01
DOI:
EISSN:
1531-8249
ISSN:
0364-5134
Source identifiers:
38048
Language:
English
Keywords:
Pubs id:
pubs:38048
UUID:
uuid:76b0143f-99b4-4000-8e97-b5873217373a
Local pid:
pubs:38048
Deposit date:
2012-12-19

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