title: Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation.
authors.forename: L V
authors.initials: LV
authors.lastname: Pereira
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D004303:Dosage Compensation, Genetic; D005260:Female; D005820:Genetic Testing; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics; D009154:Mutation; D011401:Promoter Regions, Genetic; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D014157:Transcription Factors; C077885:XIST non-coding RNA