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 |