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Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality
El-Harith A. El-Harith, Wolfgang Kühnau, Jörg Schmidtke, Dorothea Gadzicki, Mirghani Ahmed, Michael Krawczak, Manfred StuhrmannVolume:
49
Year:
2006
Language:
english
Pages:
331
DOI:
10.1016/j.ejmg.2005.09.002
File:
PDF, 243 KB
english, 2006