Importance of Investigating Somatic and Germline Mutations in Hemophilia A: A Preliminary Study from All India Institute of Medical Sciences, India

Author:

Ranjan Ravi,Biswas Arijit,Meena Arvind,Akhter Mohammad Suhail,Yadav Birendra Kumar,Ahmed Rafeeq Habeeb,Saxena Renu

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference34 articles.

1. Characterization of the human factor VIII gene;Gitschier;Nature,1984

2. Characteristic mRNA abnormality found in half the patients with severe Hemophilia A is due to large DNA inversions;Naylor;Hum Mol Genet,1993

3. Characterization of the factor VIII defect in 147 patients with sporadic Hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies;Becker;Am J Hum Genet,1996

4. Germline origins in the human F9 gene: frequent G:C—A:T mosaicism and increased mutations with advanced maternal age;Ketterling;Hum Genet,1999

5. De novo factor VIII intron 22 inversion in a female carrier presents as a somatic mosaicism;Oldenburg;Blood,2000

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