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A longitudinal study of X-inactivation ratio in human females

✍ Scribed by Ionel Sandovici; Anna K. Naumova; Mark Leppert; Yendi Linares; Carmen Sapienza

Book ID
106134045
Publisher
Springer
Year
2004
Tongue
English
Weight
247 KB
Volume
115
Category
Article
ISSN
0340-6717

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πŸ“œ SIMILAR VOLUMES

Non-skewed X-inactivation may cause ment
Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked Ξ±-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X
✍ Takahito Wada; Hideo Sugie; Yoshimitsu Fukushima; Shinji Saitoh πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 60 KB πŸ‘ 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