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RFLP analysis in families with sporadic hemophilia A

โœ Scribed by F. Bernardi; G. Marchetti; V. Bertagnolo; L. Faggioli; S. Volinia; P. Patracchini; S. Bartolai; F. Vannini; L. Felloni; L. Rossi; F. Panicucci; F. Conconi

Publisher
Springer
Year
1987
Tongue
English
Weight
814 KB
Volume
76
Category
Article
ISSN
0340-6717

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Identification of mutations in two famil
Identification of mutations in two families with sporadic hemophilia A
โœ Christine Paynton; Gobinda Sarkar; Steve S. Sommer ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 517 KB

Direct sequencing of segments of the factor VIII gene in 30 hemophiliacs with sporadic disease (32+ kb of sequence in total) revealed two missense transitions: glutamate 1704 to lysine (E17~ in a patient with severe hemophilia A and proline 2300 to serine (p2300\_\_> S) in a patient with mild hemoph