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Weak linkage in androgen receptor: identification of mutation-prone points

✍ Scribed by Viroj Wiwanitkit

Book ID
116471198
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
113 KB
Volume
91
Category
Article
ISSN
1556-5653

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Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS)
✍ Sibylle Jakubiczka; Edmond A. Werder; Peter Wieacker πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 325 KB

An exonic single nucleotide substitution in the human androgen receptor gene (hAR) could be detected in an Italian family with two children affected by complete androgen insensitivity syndrome (CAIS), also called testicular feminization. This mutation leads to a guanine to adenine transition in exon