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Introduction
About 30% of haemophilia A (HA) patients are sporadic cases. It is important to confirm the mutation origin and carrier status in these families.
Aim
To describe the spectrum and origin of the mutations in 393 Chinese sporadic HA families and identify potential mosaics among non‐carrier mothers.
Methods
AccuCopy quantification combined with long‐distance PCR was used for genotyping...
Summary. Haemophilia A (HA) and haemophilia B (HB) are the most common X‐linked inherited bleeding disorders. It is important to detect the carrier women in families with HA/HB and subsequent antenatal diagnosis of confirmed carriers. This study consists of 102 HA families which include 68 mothers for prenatal diagnosis and 107 female relatives for carrier diagnosis, and 29 HB families which include...
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