𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

✍ Scribed by Plenge, Robert M.; Hendrich, Brian D.; Schwartz, Charles; Arena, J. Fernando; Naumova, Anna; Sapienza, Carmen; Winter, Robin M.; Willard, Huntington F.

Book ID
109918668
Publisher
Nature Publishing Group
Year
1997
Tongue
English
Weight
488 KB
Volume
17
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Inheritance of skewed X chromosome inact
Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome
✍ Ørstavik, Karen Helene; Elise Ørstavik, Ragnhild; Eiklid, Kristin; TranebjΓ¦rg, L πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 19 KB πŸ‘ 3 views

A new X-linked recessive deafness syndrome was recently reported and mapped to Xq22 (Mohr-Tranebjaerg syndrome). In addition to deafness, the patients had visual impairment, dystonia, fractures, and mental deterioration. The female carriers did not have any significant manifestations of the syndrome