Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality.
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M. Krawczak | J. Schmidtke | M. Stuhrmann | D. Gadzicki | W. Kuehnau | E. A. El-Harith | M. Ahmed | W. Kühnau