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Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

✍ Scribed by Kutsche, Kerstin; Yntema, Helger; Brandt, Alexander; Jantke, Inka; Gerd Nothwang, Hans; Orth, Ulrike; Boavida, Maria G.; David, Dezsö; Chelly, Jamel; Fryns, Jean-Pierre


Book ID
109829105
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
214 KB
Volume
26
Category
Article
ISSN
1061-4036

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Characterization ofARHGEF6, a guanine nu
✍ Lower, Karen M. ;Gecz, Jozef 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 83 KB 👁 2 views

Bo È rjeson-Forssman-Lehmann syndrome (BFLS) is a syndromic X-linked mental retardation that has been mapped by linkage to Xq26±q27. A nonsyndromic mental retardation family, MRX27, has also been localized to a region of the X chromosome overlapping Xq26±q27. The gene for ARH-GEF6 (also known as aPI