title: Novel human pathological mutations. Gene symbol: AR. Disease: androgen insensitivity syndrome.
authors.affiliation: Karol Marcinkowski University of Medical Sciences, Department of Biochemistry and Molecular Biology, Swiecickiego, Poznan, Poland. justynatp@o2.pl
authors.forename: Justyna
authors.initials: J
authors.lastname: Turek-Plewa
authors.forename: Starzyk
authors.initials: S
authors.lastname: Jerzy
authors.forename: H Trzeciak
authors.initials: HT
authors.lastname: Wieslaw
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D018389:Codon, Nonsense; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D011487:Protein Conformation; D011944:Receptors, Androgen / Q000737:chemistry / Q000235:genetics*
chemical_list: C410798:AR protein, human; D018389:Codon, Nonsense; D011944:Receptors, Androgen