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Article

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.

Human molecular genetics - 1 Jun 1994

Buiting K, Dittrich B, Robinson W P, Guitart M, Abeliovich D, Lerer I, Horsthemke B

Abstract excerpt

Most patients with Prader-Willi syndrome have a deletion of 15q11-13 or maternal uniparental disomy for chromosome 15. The shortest region of deletion overlap is presently defined by the gene for the small nuclear ribonucleoprotein N (SNRPN). We have investigated the integrity of SNRPN as well as the methylation status of D15S63 (PW71) in two patients with apparently normal chromosomes 15 of biparental origin....

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Source

Identifiers

PMID: 7951232
DOI: 10.1093/hmg/3.6.893

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.PMID 7951232Read ↗

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