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X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28

โœ Scribed by Kimberly A. Hahn; Gajja S. Salomons; Darci Tackels-Horne; Tim C. Wood; Harold A. Taylor; Richard J. Schroer; Herbert A. Lubs; Cornelis Jakobs; Rick L. Olson; Kenton R. Holden; Roger E. Stevenson; Charles E. Schwartz


Book ID
117853886
Publisher
American Society of Human Genetics
Year
2002
Tongue
English
Weight
405 KB
Volume
70
Category
Article
ISSN
0002-9297

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A gene for nonspecific X-linked mental r
โœ Hamel, Ben C. J.; Kremer, Hannie; Swaay, Eveline Wesby-van; van den Helm, Bellin ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 26 KB ๐Ÿ‘ 2 views

W e report on a family in which nonsyndromal mild to moderate mental retardation segregates as an X-linked trait (MRX41). T w o point linkage analysis demonstrated linkage between the disorder and marker DXS3 in Xq21.33 with a lod score of 2.56 at 0 = 0.0 and marker DXSllO8 in Xq28 with a lod score