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A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1

✍ Scribed by Fumio Hidaka; Hirotake Sawada; Misayo Matsuyama; Hiroyuki Nunoi


Book ID
108971056
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
348 KB
Volume
47
Category
Article
ISSN
1328-8067

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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