Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation
Seventy-two patients with clinical diagnoses of Prader-Willi (PWS; n = 28 patients) or Angelman syndromes (AS; n = 44 patients) were submitted to chromosome analysis, SNRPN-SNURF exon 1 methylation assay, and microsatellite genotyping. Analysis of the methylation pattern confirmed the PWS diagnosis...
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| 主要な著者: | , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Sociedade Brasileira de Genética
2002-01-01
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| シリーズ: | Genetics and Molecular Biology |
| 主題: | |
| オンライン･アクセス: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100003 |
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