A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis.
McLeod syndrome is an X-linked recessive disorder, characterized by neuromuscular and hematopoietic dysfunction. Two cases of McLeod syndrome were reported in a family with neuroacanthocytosis and, remarkably, 1 of them was female. Direct sequence analysis of the McLeod gene in 12 members of the fam...
| Auteurs principaux: | , , , , |
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| Format: | Journal article |
| Langue: | English |
| Publié: |
1996
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