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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

✍ Scribed by Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Lidia González-Quereda, Eloy Rivas, Carmen Paradas, Marcos Madruga, Pedro Sánchez-Ayaso, Cristina Jou, Laura González-Mera, Francina Munell, Manuel Roig-Quilis, Maria Rabasa, Aurelio Hernández-Lain, et al


Book ID
119911463
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
654 KB
Volume
7
Category
Article
ISSN
1750-1172

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Hemophilia B in a female carrier due to
✍ Chan, Vivian; Chan, V. Wan Yin; Yip, Ben; Chim, C. S.; Chan, T. K. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB 👁 2 views

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