𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita

✍ 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.


πŸ“œ SIMILAR VOLUMES


Identification of four novel mutations o
✍ Yukihiko Mashima; Kei Shinoda; Susumu Ishida; Yoko Ozawa; Jun Kudoh; Takeshi Iwa πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 21 KB πŸ‘ 2 views

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

Novel mutation of theDAX1 gene in a pati
✍ Hamaguchi, Kazuyuki; Arikawa, Masaya; Yasunaga, Seikoh; Kakuma, Tetsuya; Fukagaw πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 33 KB πŸ‘ 2 views

## 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