𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome

✍ Scribed by Ch. Verellen-Dumoulin; M. Freund; R. Meyer; Ch. Laterre; J. Frédéric; M. W. Thompson; V. D. Markovic; R. G. Worton


Publisher
Springer
Year
1984
Tongue
English
Weight
906 KB
Volume
67
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


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