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Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

✍ Scribed by S. M. Tanner; K. H. Ørstavik; M. Kristiansen; D. Lev; T. Lerman-Sagie; M. Sadeh; S. Liechti-Gallati


Book ID
106137141
Publisher
Springer
Year
1999
Tongue
English
Weight
94 KB
Volume
104
Category
Article
ISSN
0340-6717

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Non-skewed X-inactivation may cause ment
✍ Takahito Wada; Hideo Sugie; Yoshimitsu Fukushima; Shinji Saitoh 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB 👁 2 views

X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is a syndromic form of X-linked mental retardation. We investigated the X-inactivation status of nine female ATR-X carriers by methylation-specific PCR of the HUMARA gene. Six carriers demonstrated a skewed X-inactivation pattern (>90:10