Identification of the first deep intronic mutation in the...

European Journal of Medical Genetics 2013 / 3 Vol. 56; Iss. 3

Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin–Lowry syndrome

Schneider, Anne, Maas, Saskia M., Hennekam, Raoul C.M., Hanauer, André
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Volume:
56
Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2012.11.007
Date:
March, 2013
File:
PDF, 636 KB
english, 2013
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