Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A
β Scribed by Inaba, Hiroshi; Shinozawa, Keiko; Seita, Ikuo; Otaki, Manabu; Suzuki, Takashi; Hagiwara, Takeshi; Amano, Kagehiro; Fukutake, Katsuyuki
- Book ID
- 120282017
- Publisher
- Carden Jennings Publishing
- Year
- 2013
- Tongue
- English
- Weight
- 224 KB
- Volume
- 97
- Category
- Article
- ISSN
- 0925-5710
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Six frameshift mutations in exon 14 of the factor VIII gene were identified in Thai hemophilia A patients. Although all these mutations created premature stop codons and expected to cause severe disease, the molecular defects and clinical severity were in discrepancy in some patients. Four mutations
## Communicated by Arupa Ganguly The amount of residual F8 (FVIII:C) determines the clinical severity of hemophilia A. Recently, we showed that the mutation detection rate in severely affected male patients (FVIII:Co1% of normal) is virtually 100% when testing for the common intron 22-/intron 1-in