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Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

Abstract:

Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life. Neurological impairment with acanthocytosis (neuroacanthocytosis) also is seen in abetalipoproteinemia and X-linked McLeod syndrome. Whereas the molecular etiology of McLeod syndrome has been defined (Ho et al. 1994), that of CHAC is still unknown. In the absence of cytogenetic rear...

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Publication status:
Published

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Publisher copy:
10.1086/514876

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Journal:
American journal of human genetics
Volume:
61
Issue:
4
Pages:
899-908
Publication date:
1997-10-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:835d190d-3949-4b3e-9592-4ced86c3b4d0
Source identifiers:
36120
Local pid:
pubs:36120

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