A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus

European Journal of Human Genetics

Volumn 5, Issue 2, 1997, Pages 94-98

  Zeschnigk, Michael ^a   Lich, Christina ^b   Buiting, Karin ^b   Doerfler, Walter ^a   Horsthemke, Bernhard ^b  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Angelman syndrome; DNA methylation; PCR; Prader Willi syndrome

Indexed keywords

BISULFITE; CYTOSINE; RESTRICTION ENDONUCLEASE; URACIL;

ALLELE; ARTICLE; ASSAY; CHROMOSOME 15Q; CONTROLLED STUDY; DNA METHYLATION; HAPPY PUPPET SYNDROME; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SINGLE BLIND PROCEDURE; SOUTHERN BLOTTING;

EID: 0030916936     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484740     Document Type: Article

References (23)

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