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Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome

✍ Scribed by S Takahashi; J Ohinata; Y Makita; N Suzuki; A Araki; A Sasaki; K Murono; H Tanaka; K Fujieda

Book ID: 110888538
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 273 KB
Volume: 73
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2007.00944.x

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A novel missense mutation (codon 351, GCT (Ala) → CCT (Pro)) of the FIX gene was characterised in a young female with mild hemophilia B. She is heterozygous for the FIX mutation inherited from her carrier mother. Analysis of the methyl-sensitive Hpa II sites at the 5 end of the hypoxanthine phosphor