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DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.

Using a test based on parent of origin specific DNA methylation at the D15S63 (PW71) locus, we studied 385 patients (aged 1 to 36 years) for diagnostic confirmation of Prader-Willi syndrome (PWS) and 65 infants (aged 0 to 12 months) with severe hypotonia of unknown cause. Fifty eight of 385 patients...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Gillessen-Kaesbach, G, Gross, S, Kaya-Westerloh, S, Passarge, E, Horsthemke, B
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1995
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050225/
https://ncbi.nlm.nih.gov/pubmed/7760327
Etiketak: Etiketa erantsi
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