Diagnostic testing for α-globin gene disorders in a heterogeneous North American population
نویسندگان
چکیده
منابع مشابه
LGMD2I in a North American population
BACKGROUND There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I). METHODS We screened the FKRP gene in two cohorts totaling 87 patients with the LGMD phenotype. RESULTS The c.826C>A, p.L276I mutation was present in six patients and a compound ...
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ژورنال
عنوان ژورنال: International Journal of Laboratory Hematology
سال: 2013
ISSN: 1751-5521
DOI: 10.1111/ijlh.12066