1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

Date

2004

Authors

Lower, K.
Solders, G.
Bondeson, M.
Nelson, J.
Brun, A.
Crawford, J.
Malm, G.
Borjeson, M.
Turner, G.
Partington, M.

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European Journal of Human Genetics, 2004; 12(10):787-789

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Karen M Lower, Göran Solders, Marie-Louise Bondeson, John Nelson, Arne Brun, Joanna Crawford, Gunilla Malm, Mats Börjeson, Gillian Turner, Michael Partington and Jozef Gécz

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