A basis for prenatal diagnosis of Haemophilia-A in Pakistani patients.
Pakistan journal of medical sciences(2022)
摘要
The five known Haemophilia-A disease causing variants were found in 40% of the Pakistani Haemophilia-A patients. The five recurrent F8 gene variants and the CA repeats in intron 13 of F8 gene can provide a comprehensive basis for carrying out prenatal diagnosis and carrier screening in majority of the Pakistani Haemophilia-A families.
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关键词
Haemophilia-A,Intron 13,Recurrent F8 gene variant
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