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A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a japanese family

✍ Scribed by Kyoko Takano; Eiji Nakagawa; Ken Inoue; Fumiaki Kamada; Shigeo Kure; Yu-ichi Goto


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
184 KB
Volume
147B
Category
Article
ISSN
1552-4841

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We report linkage analysis in a new family with nonspecific X-linked mental retardation, using 27 polymorphic markers covering the entire X-chromosome. We could assign the underlying disease gene, denoted MRX65, to the pericentromeric region, with flanking markers DXS573 in Xp11.3 and DXS990 in Xq21