Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening
نویسندگان
چکیده
منابع مشابه
Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening.
Hemophilia A (HA) and B (HB) are estimated to affect 1 in 5,000 male births in the United States each year.[1] Inheritance of mutations in the Factor VIII (F8) gene or Factor IX (F9) gene causes these bleeding disorders. Identification of mutations causing a patient’s hemophilia can lead to better understanding of risk of complications [2], as well as aid in carrier detection in family members ...
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background: the major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, x and y. because multiplex ligation-dependent probe amplification (mlpa) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. objective: to evaluate the sensitiv...
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ژورنال
عنوان ژورنال: Journal of Thrombosis and Haemostasis
سال: 2012
ISSN: 1538-7933
DOI: 10.1111/j.1538-7836.2012.04843.x