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Mutation reports: intron 1 and 22 inversions in Indian haemophilics.

作者信息

Ahmed Rafeeq, Kannan M, Choudhry Ved Prakash, Saxena Renu

机构信息

Department of Haematology, IRCH Building 1st Floor, All India Institute of Medical Sciences, 110 029, New Delhi, Ansari Nagar, India.

出版信息

Ann Hematol. 2003 Sep;82(9):546-7. doi: 10.1007/s00277-003-0704-3. Epub 2003 Jul 22.

DOI:10.1007/s00277-003-0704-3
PMID:12879284
Abstract

Intron 1 and 22 inversions were looked for in 80 severe haemophilia A patients in India using PCR and multiplex Long-Distance Subcycling-PCR, respectively. Intron 1 inversion was seen in 3 (3.75%) and intron 22 inversion was seen in 35 (43.75%) patients. Of severe haemophilics, 47.5% had either of these inversions. It is thus suggested that screening for inversions may be the first step in genetic testing of Indian haemophilics.

摘要

相似文献

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