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Document type:
journal article 
Author(s):
Ramser, J; Winnepenninckx, B; Lenski, C; Errijgers, V; Platzer, M; Schwartz, CE; Meindl, A; Kooy, RF 
Title:
A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). 
Abstract:
Mental retardation is the most frequent cause of serious handicap in children and young adults. The underlying causes of this heterogeneous condition are both acquired and genetically based. A recently performed refinement of the linkage interval in a large Belgian family with mild to severe non-syndromic X linked mental retardation, classified as MRX9, revealed a candidate region of 11.3 Mb between markers DXS228 and DXS1204 on the short arm of the X chromosome. In order to identify the underly...    »
 
Journal title abbreviation:
J Med Genet 
Year:
2004 
Journal volume:
41 
Journal issue:
Pages contribution:
679-83 
Language:
eng 
Print-ISSN:
0022-2593 
TUM Institution:
Frauenklinik und Poliklinik