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Article

Imprinting-mutation mechanisms in Prader-Willi syndrome.

American journal of human genetics - 1 Feb 1999

Ohta T, Gray T A, Rogan P K, Buiting K, Gabriel J M, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll D J, Horsthemke B, Butler M G, Nicholls R D

Abstract excerpt

Microdeletions of a region termed the "imprinting center" (IC) in chromosome 15q11-q13 have been identified in several families with Prader-Willi syndrome (PWS) or Angelman syndrome who show epigenetic inheritance for this region that is consistent with a mutation in the imprinting process. The IC controls resetting of parental imprints in 15q11-q13 during gametogenesis. We have identified a larger series of...

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Identifiers

PMID: 9973278
DOI: 10.1086/302233
PMCID: PMC1377750

Genes

SNRPN

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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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