Article
Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome.
Transfusion - 1 Mar 2009
Arnaud Lionel, Salachas François, Lucien Nicole, Maisonobe Thierry, Le Pennec Pierre-Yves, Babinet Jérôme, Cartron Jean-Pierre
Abstract excerpt
BACKGROUND: McLeod syndrome is a rare X-linked neuroacanthocytosis syndrome with hematologic, muscular, and neurologic manifestations. McLeod syndrome is caused by mutations in the XK gene whose product is expressed at the red blood cell (RBC) surface but whose function is currently unknown. A variety of XK mutations has been reported but no clear phenotype-genotype correlation has been found, especially for the...
Topics
- Adult
- Amino Acid Transport Systems, Neutral
- Base Sequence
- Erythrocytes
- Hematologic Diseases
- Humans
- Male
- Neuroacanthocytosis
- Phenotype
- RNA Splice Sites