Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita
β Scribed by Hirokazu Kanegane; Yoshihito Kasahara; Jun Okamura; Teruaki Hongo; Rieko Tanaka; Keiko Nomura; Seiji Kojima; Toshio Miyawaki
- Book ID
- 108673161
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 151 KB
- Volume
- 129
- Category
- Article
- ISSN
- 0007-1048
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
The XLRS1 gene (HUGO-approved symbol, RS1) has been found to cause X-linked recessive retinoschisis (RS) which is characterized by splitting of the superficial layer of the retina. Recent mutation analysis of this gene revealed 82 different mutations in 214 patients with RS. We have now identified 1
## X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HHG). Mutations of the DAX1 gene have been reported in patients with AHC and HHG. We found a novel DAX1 mutation in our patient. Sequenc