𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Segregation analysis of the X-chromosome in a family with rett syndrome in two generations

✍ Scribed by Anvret, Maria ;Wahlström, Jan ;Skogsberg, Per ;Hagberg, Bengt

Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
457 KB
Volume
37
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 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; Tranebjærg, L 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 2 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

Mutational analysis of the Wolfram syndr
Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder
✍ Evans, K.L.; Lawson, D.; Meitinger, T.; Blackwood, D.H.r.; Porteous, D.J. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

Bipolar affective disorder (BPAD) is a complex disease with a significant genetic component. Heterozygous carriers of Wolfram syndrome (WFS) are at increased risk of psychiatric illness. A gene for WFS (WFS1) has recently been cloned and mapped to chromosome 4p, in the general region we previously r