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CONCORDANCE OF X-LINKED GLYCEROL KINASE DEFICIENCY WITH X-LINKED CONGENITAL ADRENAL HYPOPLASIA

โœ Scribed by Bartley, JamesA; Miller, DebraK; Hayford, JohnT; Mccabe, EdwardR.B


Book ID
122379710
Publisher
The Lancet
Year
1982
Tongue
English
Weight
549 KB
Volume
320
Category
Article
ISSN
0140-6736

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Novel missense mutation (Leu466Arg) of t
โœ Abe, Shuji; Nakae, Jun; Yasoshima, Kouichi; Tajima, Toshihiro; Shinohara, Nozomi ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 17 KB ๐Ÿ‘ 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