McLeod neuroacanthocytosis: genotype and phenotype.

McLeod neuroacanthocytosis: genotype and phenotype.

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 2...

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التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Danek, A, Rubio, J, Rampoldi, L, Ho, M, Dobson-Stone, C, Tison, F, Symmans, W, Oechsner, M, Kalckreuth, W, Watt, J, Corbett, A, Hamdalla, H, Marshall, A, Sutton, I, Dotti, M, Malandrini, A, Walker, R, Daniels, G, Monaco, A
التنسيق: Journal article
اللغة:English
منشور في: 2001

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