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The human androgen receptor gene (hAR) has a long, polymorphic trinucleotide (GGN; glycine)n repeat in the 3' portion of its first exon, with n = 10-31. Owing to technical difficulties that have precluded routine sequencing of this region, it is widely unknown that N represents T, G or C, and that the usual sense codon sequence of the GGN tract is(More)
Thoracic disc herniation is a rare and slowly progressing disease, commonest at the lower thoracic spine. We performed transthoracic discectomy and interbody fusion in 12 patients with an average age of 46 years suffering from symptomatic herniated thoracic disc. Pain and neurologic impairment were the commonest symptoms at admission. The outcome at a mean(More)
We have discovered two types of 5' intronic gene mutation that impair androgen receptor (AR) mRNA expression severely, and cause complete androgen insensitivity. Labium majus skin fibroblasts (LMSF) hemizygous for each mutation had negligible specific androgen binding, and did not react to an antibody against an N-terminal peptide of the AR. Both mutations(More)
Eleven mutations in exon 1 of the androgen receptor gene (AR) have been identified in 15 individuals with Androgen Insensitivity syndrome (AIS). Nine of the mutations yield a stop codon directly, or due to a frameshift, in individuals with complete AIS (CAIS). One individual with CAIS had three different mutations in exon 1: one is nominally silent (Glu(More)
We describe different single-amino acid aberrations in the DNA-binding domain (DBD) of the human androgen receptor (hAR) in three families with complete androgen insensitivity. No additional alteration was found in the translated portion of each mutant gene. In one family, an in-frame 3 nt deletion removes codon 581-(or 582) and, thereby, one of two(More)
BACKGROUND Goodpasture syndrome, an immunologic disorder characterized by glomerulonephritis and pulmonary hemorrhage, rarely presents in pregnancy. CASE We describe a patient who was diagnosed with Goodpasture syndrome in her second trimester. She required daily hemodialysis, intermittent plasmapheresis, and immunosuppressive therapy. Her pregnancy was(More)
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