𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Female twin with hunter disease due to nonrandom inactivation of the X-chromosome: A consequence of twinning

✍ Scribed by Winchester, Bryan ;Young, Elisabeth ;Geddes, Stella ;Genet, Sally ;Hurst, Jane ;Middelton-Price, Helen ;Williams, Nicola ;Webb, Michael ;Habel, Alex ;Malcolm, Susan

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
551 KB
Volume
44
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Additional case of female monozygotic tw
Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation
✍ Abbadi, N. ;Philippe, C. ;Chery, M. ;Gilgenkrantz, H. ;Tome, F. ;Collin, H. ;The πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 904 KB

## Abstract A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for

Hemophilia B in a female carrier due to
Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome
✍ Chan, Vivian; Chan, V. Wan Yin; Yip, Ben; Chim, C. S.; Chan, T. K. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 234 KB πŸ‘ 2 views

A novel missense mutation (codon 351, GCT (Ala) β†’ 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