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Type: Journal article
Title: 1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
Other Titles: 1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family
Author: Lower, K.
Solders, G.
Bondeson, M.
Nelson, J.
Brun, A.
Crawford, J.
Malm, G.
Borjeson, M.
Turner, G.
Partington, M.
Gecz, J.
Citation: European Journal of Human Genetics, 2004; 12(10):787-789
Publisher: Nature Publishing Group
Issue Date: 2004
ISSN: 1018-4813
Statement of
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
Keywords: Humans; Mental Retardation, X-Linked; Obesity; Hypogonadism; Syndrome; Arginine; Pedigree; Point Mutation; Female; Male
RMID: 0020041839
DOI: 10.1038/sj.ejhg.5201228
Appears in Collections:Paediatrics publications

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