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...

Полное описание

Библиографические подробности
Главные авторы: 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
Формат: Journal article
Язык:English
Опубликовано: 2001

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