𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita

✍ Scribed by Esra Arun Ozer; Aysun Kaya; Munevver Yildirimer; Ozlem Guler; Sule Can; Halil Aydinlioglu

Publisher
Springer
Year
2008
Tongue
English
Weight
72 KB
Volume
168
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Novel mutation of theDAX1 gene in a pati
Novel mutation of theDAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
✍ 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

Novel missense mutation (Leu466Arg) of t
Novel missense mutation (Leu466Arg) of theDAX1 gene in a patient with X-linked congenital adrenal hypoplasia
✍ Abe, Shuji; Nakae, Jun; Yasoshima, Kouichi; Tajima, Toshihiro; Shinohara, Nozomi πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 17 KB πŸ‘ 2 views

We identified a DAX1 missense mutation, a substitution of arginine for leucine at codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia (AHC). A heterozygous substitution, Leu466Arg, was also identified in his mother and sister. Since leucine at position 466 is well conserv