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Paper Information

Journal:   IRANIAN JOURNAL OF BIOTECHNOLOGY   April 2004 , Volume 2 , Number 2; Page(s) 132 To 135.
 
Paper: 

CARRIER DETERMINATION IN A HEMOPHILIA B FAMILY USING SINGLE STRAND CONFORMATION POLYMORPHISM (SSCP) AND SEQUENCING

 
 
Author(s):  KARIMIPOUR M., ZEYNALI S.*, SAFAEE R., LAK M., NAFISSI N.
 
* Pasteur Institute of Iran, Tehran
 
Abstract: 
Hemophilia B is an X-linked recessive bleeding disorder caused by heterogeneous mutations in factor IX gene. In about one-third of cases it arises by a new mutation in germ-line cells. In this study carrier testing was performed for females of a family with only one affected individual by single strand conformation polymorphism (SSCP). Results indicated that the SSCP band shift in the propositus was de novo and his mother and also sisters were not carrier. This finding was also confirmed by sequencing.
 
Keyword(s): HEMOPHILIA B, MUTATION, SSCP, CARRIER TESTING
 
References: 
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