What is it about?
A description of molecular characterization of mutations in a patient with combined hemophilia A and Duchenne muscular dystrophy.
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Why is it important?
Acquiring two X-linked abnormalities, of which one is hereditary and another one developed de novo, is extremely low. However, the existence of such cases indicates that genetic testing for certain X-linked diseases could be of importance in patients with hereditary hemophilia.
Perspectives
Genetic testing for distinct X-linked diseases could be of importance in patients with hereditary hemophilia.
Dr Petra Hudler
University of Ljubljana
Read the Original
This page is a summary of: De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy, International Journal of Hematology, December 2013, Springer Science + Business Media,
DOI: 10.1007/s12185-013-1488-4.
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