Gene symbol: MECP2. Disease: Rett syndrome (atypical)

التفاصيل البيبلوغرافية
العنوان: Gene symbol: MECP2. Disease: Rett syndrome (atypical)
المؤلفون: O, Penagarikano, Cristina, Martinez-Bouzas, Mónica, Mínguez, Arantza, Sanz-Parra, Eva, García-Alegría, Elena, Beristain, M Isabel, Tejada
المصدر: Human genetics. 118(3-4)
سنة النشر: 2006
مصطلحات موضوعية: Phenotype, Adolescent, Amino Acid Substitution, Codon, Nonsense, Learning Disabilities, Methyl-CpG-Binding Protein 2, Fragile X Syndrome, Intellectual Disability, Mutation, Missense, Rett Syndrome, Humans, Female, Severity of Illness Index
تدمد: 0340-6717
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c75ca198c144c1c811423a422aa4b457
https://pubmed.ncbi.nlm.nih.gov/16521306
رقم الانضمام: edsair.pmid..........c75ca198c144c1c811423a422aa4b457
قاعدة البيانات: OpenAIRE