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Prepubertal diagnosis of X-linked congenital adrenal hypoplasia presenting after infancy

✍ Scribed by Kah Yin Loke; Kok Seng Poh Larry; Yung Seng Lee; Michael Peter; Stenvert L. S. Drop


Book ID
105745765
Publisher
Springer
Year
2000
Tongue
English
Weight
113 KB
Volume
159
Category
Article
ISSN
0340-6997

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Novel missense mutation (Leu466Arg) of t
✍ 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