A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients
نویسندگان
چکیده
منابع مشابه
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients
BACKGROUND Fanconi anemia (FA) is a predominantly autosomal recessive disease with wide genetic heterogeneity resulting from mutations in several DNA repair pathway genes. To date, 21 genetic subtypes have been identified. We aimed to identify the FA genetic subtypes in the Brazilian population and to develop a strategy for molecular diagnosis applicable to routine clinical use. METHODS We sc...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2017
ISSN: 2324-9269
DOI: 10.1002/mgg3.293